nsv4449713
- Organism: Homo sapiens
- Study:nstd177 (Louzada et al. 2020)
- Variant Type:copy number variation
- Method Type:PCR
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:103,385
- Publication(s):Louzada et al. 2020
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 944 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 944 SVs from 86 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4449713 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,991,719 | 143,991,848 | 144,094,974 | 144,095,103 |
nsv4449713 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,912,872 | 144,913,001 | 145,016,127 | 145,016,256 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv15768581 | deletion | SAMN00001677 | PCR | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15768581 | Remapped | Perfect | NC_000004.12:g.(14 3991719_143991848) _(144094974_144095 103)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,991,719 | 143,991,848 | 144,094,974 | 144,095,103 |
nssv15768581 | Submitted genomic | NC_000004.11:g.(14 4912872_144913001) _(145016127_145016 256)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,912,872 | 144,913,001 | 145,016,127 | 145,016,256 |