nsv3913494
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:271,723
- Description:NCBI36/hg18 4q28.3(chr4:135146708-135373396)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: 896 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 896 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3913494 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 133,987,249 | 134,006,103 | 134,232,791 | 134,258,971 |
| nsv3913494 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 134,908,404 | 134,927,258 | 135,153,946 | 135,180,126 |
| nsv3913494 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 135,127,854 | 135,146,708 | 135,373,396 | 135,399,576 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15125771 | copy number loss | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000451544.2, VCV000402012.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15125771 | Remapped | Perfect | NC_000004.12:g.(13 3987249_134006103) _(134232791_134258 971)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 133,987,249 | 134,006,103 | 134,232,791 | 134,258,971 |
| nssv15125771 | Remapped | Perfect | NC_000004.11:g.(13 4908404_134927258) _(135153946_135180 126)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 134,908,404 | 134,927,258 | 135,153,946 | 135,180,126 |
| nssv15125771 | Submitted genomic | NC_000004.10:g.(13 5127854_135146708) _(135373396_135399 576)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 135,127,854 | 135,146,708 | 135,373,396 | 135,399,576 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15125771 | NCBI36: NC_000004.10:g.(135127854_135146708)_(135373396_135399576)del | copy number loss | not provided | See cases | conflicting data from submitters | ClinVar | RCV000451544.2, VCV000402012.2 | 1 |