nsv3915450
- 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:39,907,856
- Description:GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)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: 99405 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 99362 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 24466 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915450 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 91,411,708 | 131,319,563 |
| nsv3915450 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 90,707,525 | 130,655,256 |
| nsv3915450 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 90,743,281 | 130,683,155 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139660 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143746.5, VCV000155679.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139660 | Submitted genomic | NC_000005.10:g.(?_ 91411708)_(1313195 63_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 91,411,708 | 131,319,563 |
| nssv15139660 | Submitted genomic | NC_000005.9:g.(?_9 0707525)_(13065525 6_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 90,707,525 | 130,655,256 |
| nssv15139660 | Submitted genomic | NC_000005.8:g.(?_9 0743281)_(13068315 5_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 90,743,281 | 130,683,155 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139660 | GRCh37: NC_000005.9:g.(?_90707525)_(130655256_?)del, GRCh38: NC_000005.10:g.(?_91411708)_(131319563_?)del, NCBI36: NC_000005.8:g.(?_90743281)_(130683155_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143746.5, VCV000155679.2 | 1 |