nsv4684422
- Organism: Homo sapiens
- Study:nstd192 (Smajlagić et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:219,142
- Publication(s):Smajlagic et al. 2020
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: 1255 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1255 SVs from 89 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4684422 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 28,814,283 | 29,033,424 |
nsv4684422 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 28,825,604 | 29,044,745 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv16215330 | duplication | mb1:o30 | SNP array | SNP genotyping analysis |
nssv16215331 | duplication | mb1:o31 | SNP array | SNP genotyping analysis |
nssv16215332 | duplication | mb1:o32 | SNP array | SNP genotyping analysis |
nssv16215333 | duplication | mb1:o33 | SNP array | SNP genotyping analysis |
nssv16215334 | duplication | mb1:o34 | SNP array | SNP genotyping analysis |
nssv16215374 | deletion | mb1:o28 | SNP array | SNP genotyping analysis |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16215330 | Remapped | Perfect | NC_000016.10:g.(?_ 28814283)_(2903342 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,814,283 | 29,033,424 |
nssv16215331 | Remapped | Perfect | NC_000016.10:g.(?_ 28814283)_(2903342 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,814,283 | 29,033,424 |
nssv16215332 | Remapped | Perfect | NC_000016.10:g.(?_ 28814283)_(2903342 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,814,283 | 29,033,424 |
nssv16215333 | Remapped | Perfect | NC_000016.10:g.(?_ 28814283)_(2903342 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,814,283 | 29,033,424 |
nssv16215334 | Remapped | Perfect | NC_000016.10:g.(?_ 28814283)_(2903342 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,814,283 | 29,033,424 |
nssv16215374 | Remapped | Perfect | NC_000016.10:g.(?_ 28814283)_(2903342 4_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,814,283 | 29,033,424 |
nssv16215330 | Submitted genomic | NC_000016.9:g.(?_2 8825604)_(29044745 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 28,825,604 | 29,044,745 | ||
nssv16215331 | Submitted genomic | NC_000016.9:g.(?_2 8825604)_(29044745 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 28,825,604 | 29,044,745 | ||
nssv16215332 | Submitted genomic | NC_000016.9:g.(?_2 8825604)_(29044745 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 28,825,604 | 29,044,745 | ||
nssv16215333 | Submitted genomic | NC_000016.9:g.(?_2 8825604)_(29044745 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 28,825,604 | 29,044,745 | ||
nssv16215334 | Submitted genomic | NC_000016.9:g.(?_2 8825604)_(29044745 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 28,825,604 | 29,044,745 | ||
nssv16215374 | Submitted genomic | NC_000016.9:g.(?_2 8825604)_(29044745 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 28,825,604 | 29,044,745 |