nsv3904737
- 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:569,063
- Description:GRCh38/hg38 1p34.1(chr1:44713837-45282899)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: 1781 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1781 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 395 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3904737 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 44,713,837 | 45,282,899 |
| nsv3904737 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 45,179,509 | 45,748,571 |
| nsv3904737 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 44,952,096 | 45,521,158 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146342 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051129.6, VCV000057429.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146342 | Submitted genomic | NC_000001.11:g.(?_ 44713837)_(4528289 9_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 44,713,837 | 45,282,899 |
| nssv15146342 | Submitted genomic | NC_000001.10:g.(?_ 45179509)_(4574857 1_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 45,179,509 | 45,748,571 |
| nssv15146342 | Submitted genomic | NC_000001.9:g.(?_4 4952096)_(45521158 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 44,952,096 | 45,521,158 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146342 | GRCh37: NC_000001.10:g.(?_45179509)_(45748571_?)dup, GRCh38: NC_000001.11:g.(?_44713837)_(45282899_?)dup, NCBI36: NC_000001.9:g.(?_44952096)_(45521158_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000051129.6, VCV000057429.1 | 3 |