nsv3907097
- 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:504,379
- Description:GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3 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: 1332 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1332 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 360 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3907097 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 53,823,735 | 54,328,113 |
| nsv3907097 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 54,289,408 | 54,793,786 |
| nsv3907097 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 54,061,996 | 54,566,374 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138256 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142034.4, VCV000153752.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138256 | Submitted genomic | NC_000001.11:g.(?_ 53823735)_(5432811 3_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 53,823,735 | 54,328,113 |
| nssv15138256 | Submitted genomic | NC_000001.10:g.(?_ 54289408)_(5479378 6_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 54,289,408 | 54,793,786 |
| nssv15138256 | Submitted genomic | NC_000001.9:g.(?_5 4061996)_(54566374 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 54,061,996 | 54,566,374 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138256 | GRCh37: NC_000001.10:g.(?_54289408)_(54793786_?)dup, GRCh38: NC_000001.11:g.(?_53823735)_(54328113_?)dup, NCBI36: NC_000001.9:g.(?_54061996)_(54566374_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000142034.4, VCV000153752.2 | 3 |