nsv3904603
- 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:3,350
- Description:GRCh38/hg38 1p34.1(chr1:44838131-44841480)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: 122 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3904603 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 44,838,131 | 44,841,480 |
| nsv3904603 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 45,303,803 | 45,307,152 |
| nsv3904603 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 45,076,390 | 45,079,739 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120755 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053838.5, VCV000059967.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120755 | Submitted genomic | NC_000001.11:g.(?_ 44838131)_(4484148 0_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 44,838,131 | 44,841,480 |
| nssv15120755 | Submitted genomic | NC_000001.10:g.(?_ 45303803)_(4530715 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 45,303,803 | 45,307,152 |
| nssv15120755 | Submitted genomic | NC_000001.9:g.(?_4 5076390)_(45079739 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 45,076,390 | 45,079,739 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120755 | GRCh37: NC_000001.10:g.(?_45303803)_(45307152_?)del, GRCh38: NC_000001.11:g.(?_44838131)_(44841480_?)del, NCBI36: NC_000001.9:g.(?_45076390)_(45079739_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053838.5, VCV000059967.1 | 1 |