nsv3914475
- 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:2,983,768
- Description:GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)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: 6618 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 6618 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1637 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914475 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 168,433,412 | 171,417,179 |
| nsv3914475 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 167,860,417 | 170,844,183 |
| nsv3914475 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 167,792,995 | 170,776,788 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138494 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140907.4, VCV000152349.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138494 | Submitted genomic | NC_000005.10:g.(?_ 168433412)_(171417 179_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 168,433,412 | 171,417,179 |
| nssv15138494 | Submitted genomic | NC_000005.9:g.(?_1 67860417)_(1708441 83_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 167,860,417 | 170,844,183 |
| nssv15138494 | Submitted genomic | NC_000005.8:g.(?_1 67792995)_(1707767 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 167,792,995 | 170,776,788 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138494 | GRCh37: NC_000005.9:g.(?_167860417)_(170844183_?)del, GRCh38: NC_000005.10:g.(?_168433412)_(171417179_?)del, NCBI36: NC_000005.8:g.(?_167792995)_(170776788_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000140907.4, VCV000152349.2 | 1 |