nsv3923721
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,530,374
- Description:GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 19724 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 19591 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 4839 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923721 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 45,681,671 | 54,212,044 |
| nsv3923721 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 45,649,408 | 54,076,842 |
| nsv3923721 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 45,757,386 | 54,184,801 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161335 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138349.6, VCV000149301.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161335 | Submitted genomic | NC_000006.12:g.(?_ 45681671)_(5421204 4_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 45,681,671 | 54,212,044 |
| nssv15161335 | Submitted genomic | NC_000006.11:g.(?_ 45649408)_(5407684 2_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 45,649,408 | 54,076,842 |
| nssv15161335 | Submitted genomic | NC_000006.10:g.(?_ 45757386)_(5418480 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 45,757,386 | 54,184,801 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161335 | GRCh37: NC_000006.11:g.(?_45649408)_(54076842_?)del, GRCh38: NC_000006.12:g.(?_45681671)_(54212044_?)del, NCBI36: NC_000006.10:g.(?_45757386)_(54184801_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000138349.6, VCV000149301.2 | 1 |