nsv4436723
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:475,838
- Description:GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3 AND Sensorineural hearing impairment
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1804 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 622 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 1804 SVs from 88 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4436723 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 179,638,653 | 179,638,653 | 180,114,490 | 180,114,490 |
| nsv4436723 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | - | 420,871 | 673,059 | - |
| nsv4436723 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 179,065,654 | 179,085,554 | 179,524,010 | 179,541,490 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15755120 | copy number gain | Multiple | Multiple | Hearing Loss, Sensorineural; Sensorineural hearing impairment; Sensorineural hearing loss | Uncertain significance | ClinVar | RCV000787295.3, VCV000635776.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15755120 | Remapped | Pass | NW_016107298.1:g.( ?_420871)_(673059_ ?)dup | GRCh38.p12 | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | - | 420,871 | 673,059 | - |
| nssv15755120 | Remapped | Perfect | NC_000005.10:g.(17 9638653_179638653) _(180114490_180114 490)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 179,638,653 | 179,638,653 | 180,114,490 | 180,114,490 |
| nssv15755120 | Submitted genomic | NC_000005.9:g.(179 065654_179085554)_ (179524010_1795414 90)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 179,065,654 | 179,085,554 | 179,524,010 | 179,541,490 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15755120 | GRCh37: NC_000005.9:g.(179065654_179085554)_(179524010_179541490)dup | copy number gain | unknown | Hearing Loss, Sensorineural; Sensorineural hearing impairment; Sensorineural hearing loss | Uncertain significance | ClinVar | RCV000787295.3, VCV000635776.2 | 3 |