nsv4684305
- 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:126,505
- Description:GRCh37/hg19 17q12(chr17:35800407-35926911)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: 416 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 576 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4684305 | Submitted genomic | GRCh38 (hg38) | ALT_REF_LOCI_1 | NT_187614.1 | Chr17|NT_1 87614.1 | 1,679,472 | 1,805,976 |
| nsv4684305 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 35,800,407 | 35,926,911 |
| nsv4684305 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 32,874,520 | 33,001,024 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139123 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143006.5, VCV000154939.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139123 | Submitted genomic | NT_187614.1:g.(?_1 679472)_(1805976_? )del | GRCh38 (hg38) | NT_187614.1 | Chr17|NT_1 87614.1 | 1,679,472 | 1,805,976 |
| nssv15139123 | Submitted genomic | NC_000017.10:g.(?_ 35800407)_(3592691 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 35,800,407 | 35,926,911 |
| nssv15139123 | Submitted genomic | NC_000017.9:g.(?_3 2874520)_(33001024 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 32,874,520 | 33,001,024 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139123 | GRCh37: NC_000017.10:g.(?_35800407)_(35926911_?)del, GRCh38: NT_187614.1:g.(?_1679472)_(1805976_?)del, NCBI36: NC_000017.9:g.(?_32874520)_(33001024_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000143006.5, VCV000154939.2 | 1 |