nsv1065696
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:19
- Validation:Not tested
- Clinical Assertions: No
- Region Size:293,838
- Publication(s):Coe et al. 2014
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2285 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 2285 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 934 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1065696 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nsv1065696 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nsv1065696 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3571990 | copy number gain | SNP array | Probe signal intensity |
| nssv3571991 | copy number gain | SNP array | Probe signal intensity |
| nssv3571992 | copy number gain | SNP array | Probe signal intensity |
| nssv3571993 | copy number loss | SNP array | Probe signal intensity |
| nssv3571994 | copy number gain | SNP array | Probe signal intensity |
| nssv3571995 | copy number loss | SNP array | Probe signal intensity |
| nssv3571996 | copy number loss | SNP array | Probe signal intensity |
| nssv3571997 | copy number gain | SNP array | Probe signal intensity |
| nssv3571998 | copy number gain | SNP array | Probe signal intensity |
| nssv3571999 | copy number gain | SNP array | Probe signal intensity |
| nssv3572000 | copy number gain | SNP array | Probe signal intensity |
| nssv3572001 | copy number loss | SNP array | Probe signal intensity |
| nssv3572002 | copy number loss | SNP array | Probe signal intensity |
| nssv3572003 | copy number gain | SNP array | Probe signal intensity |
| nssv3572004 | copy number gain | SNP array | Probe signal intensity |
| nssv3572005 | copy number gain | SNP array | Probe signal intensity |
| nssv3572006 | copy number loss | SNP array | Probe signal intensity |
| nssv3572007 | copy number gain | SNP array | Probe signal intensity |
| nssv3572008 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3571990 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3571991 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3571992 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3571993 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3571994 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3571995 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3571996 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3571997 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3571998 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3571999 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3572000 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3572001 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3572002 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3572003 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3572004 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3572005 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3572006 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3572007 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3572008 | Remapped | Perfect | NC_000019.10:g.(?_ 27257073)_(2755091 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,257,073 | 27,550,910 |
| nssv3571990 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3571991 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3571992 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3571993 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3571994 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3571995 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3571996 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3571997 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3571998 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3571999 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3572000 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3572001 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3572002 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3572003 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3572004 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3572005 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3572006 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3572007 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3572008 | Remapped | Perfect | NC_000019.9:g.(?_2 7747981)_(28041818 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,747,981 | 28,041,818 |
| nssv3571990 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3571991 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3571992 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3571993 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3571994 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3571995 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3571996 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3571997 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3571998 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3571999 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3572000 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3572001 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3572002 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3572003 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3572004 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3572005 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3572006 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3572007 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 | ||
| nssv3572008 | Submitted genomic | NC_000019.8:g.(?_3 2439821)_(32733658 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,439,821 | 32,733,658 |