nsv4447983
- Organism: Homo sapiens
- Study:nstd175 (Genome in a Bottle)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:174
- Description:SVTYPE=DEL;REPTYPE=SIMPLEDEL
- Publication(s):Genome in a Bottle
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: 406 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 404 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4447983 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 79,966,618 | 79,966,791 |
nsv4447983 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187635.1 | ChrX|NT_18 7635.1 | 142,569 | 142,742 |
nsv4447983 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 79,222,117 | 79,222,290 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15766374 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15766374 | Remapped | Perfect | NT_187635.1:g.1425 69_142742del | GRCh38.p12 | Second Pass | NT_187635.1 | ChrX|NT_18 7635.1 | 142,569 | 142,742 |
nssv15766374 | Remapped | Perfect | NC_000023.11:g.799 66618_79966791del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 79,966,618 | 79,966,791 |
nssv15766374 | Submitted genomic | NC_000023.10:g.792 22117_79222290del | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,222,117 | 79,222,290 |