nsv442512
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,715
- Publication(s):McCarroll et al. 2008
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: 376 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv442512 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nsv442512 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nsv442512 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1637816 | copy number loss | NA10831 | SNP array | Probe signal intensity | 1 | 153 |
| nssv1637817 | copy number loss | NA10835 | SNP array | Probe signal intensity | 1 | 165 |
| nssv1637818 | copy number loss | NA10847 | SNP array | Probe signal intensity | 1 | 150 |
| nssv1637819 | copy number loss | NA12156 | SNP array | Probe signal intensity | 1 | 153 |
| nssv1637820 | copy number loss | NA12239 | SNP array | Probe signal intensity | 1 | 165 |
| nssv1637821 | copy number loss | NA12248 | SNP array | Probe signal intensity | 1 | 156 |
| nssv1637822 | copy number loss | NA12873 | SNP array | Probe signal intensity | 1 | 158 |
| nssv1637823 | copy number loss | NA18501 | SNP array | Probe signal intensity | 1 | 192 |
| nssv1637824 | copy number loss | NA18871 | SNP array | Probe signal intensity | 1 | 174 |
| nssv1637825 | copy number loss | NA19140 | SNP array | Probe signal intensity | 1 | 182 |
| nssv1637826 | copy number loss | NA19171 | SNP array | Probe signal intensity | 1 | 179 |
| nssv1637827 | copy number loss | NA19173 | SNP array | Probe signal intensity | 1 | 177 |
| nssv1637828 | copy number loss | NA19207 | SNP array | Probe signal intensity | 1 | 149 |
| nssv1637829 | copy number loss | NA19210 | SNP array | Probe signal intensity | 1 | 171 |
| nssv1637830 | copy number loss | NA19211 | SNP array | Probe signal intensity | 1 | 169 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1637816 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637817 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637818 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637819 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637820 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637821 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637822 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637823 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637824 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637825 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637826 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637827 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637828 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637829 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637830 | Remapped | Perfect | NC_000008.11:g.(?_ 40326278)_(4033199 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,326,278 | 40,331,992 |
| nssv1637816 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637817 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637818 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637819 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637820 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637821 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637822 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637823 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637824 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637825 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637826 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637827 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637828 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637829 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637830 | Remapped | Perfect | NC_000008.10:g.(?_ 40183797)_(4018951 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 40,183,797 | 40,189,511 |
| nssv1637816 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637817 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637818 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637819 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637820 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637821 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637822 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637823 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637824 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637825 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637826 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637827 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637828 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637829 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 | ||
| nssv1637830 | Submitted genomic | NC_000008.9:g.(?_4 0302954)_(40308668 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 40,302,954 | 40,308,668 |