nsv1349876
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:133,160
- Publication(s):Duyzend et al. 2015
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: 1427 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1400 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 22 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1349876 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 57,861,227 | 57,994,386 |
nsv1349876 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 57,920,933 | 58,054,092 |
nsv1349876 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 57,924,875 | 58,058,034 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv7833481 | copy number loss | SNP array | Probe signal intensity |
nssv7833482 | copy number loss | SNP array | Probe signal intensity |
nssv7833483 | copy number loss | SNP array | Probe signal intensity |
nssv7833484 | copy number loss | SNP array | Probe signal intensity |
nssv8349200 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv7833481 | Remapped | Perfect | NC_000007.14:g.(?_ 57861227)_(5799438 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,861,227 | 57,994,386 |
nssv7833482 | Remapped | Perfect | NC_000007.14:g.(?_ 57861227)_(5799438 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,861,227 | 57,994,386 |
nssv7833483 | Remapped | Perfect | NC_000007.14:g.(?_ 57861227)_(5799438 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,861,227 | 57,994,386 |
nssv7833484 | Remapped | Perfect | NC_000007.14:g.(?_ 57861227)_(5799438 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,861,227 | 57,994,386 |
nssv8349200 | Remapped | Perfect | NC_000007.14:g.(?_ 57861227)_(5799438 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,861,227 | 57,994,386 |
nssv7833481 | Remapped | Perfect | NC_000007.13:g.(?_ 57920933)_(5805409 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,920,933 | 58,054,092 |
nssv7833482 | Remapped | Perfect | NC_000007.13:g.(?_ 57920933)_(5805409 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,920,933 | 58,054,092 |
nssv7833483 | Remapped | Perfect | NC_000007.13:g.(?_ 57920933)_(5805409 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,920,933 | 58,054,092 |
nssv7833484 | Remapped | Perfect | NC_000007.13:g.(?_ 57920933)_(5805409 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,920,933 | 58,054,092 |
nssv8349200 | Remapped | Perfect | NC_000007.13:g.(?_ 57920933)_(5805409 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,920,933 | 58,054,092 |
nssv7833481 | Submitted genomic | NC_000007.12:g.(?_ 57924875)_(5805803 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,924,875 | 58,058,034 | ||
nssv7833482 | Submitted genomic | NC_000007.12:g.(?_ 57924875)_(5805803 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,924,875 | 58,058,034 | ||
nssv7833483 | Submitted genomic | NC_000007.12:g.(?_ 57924875)_(5805803 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,924,875 | 58,058,034 | ||
nssv7833484 | Submitted genomic | NC_000007.12:g.(?_ 57924875)_(5805803 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,924,875 | 58,058,034 | ||
nssv8349200 | Submitted genomic | NC_000007.12:g.(?_ 57924875)_(5805803 4_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,924,875 | 58,058,034 |