nsv4436942
- 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:49,059
- 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: 854 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 688 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 854 SVs from 87 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4436942 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,778,259 | 34,827,317 |
nsv4436942 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,588 | 319,646 |
nsv4436942 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 34,779,881 | 34,828,939 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15765041 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15765041 | Remapped | Perfect | NW_003315915.1:g.2 70588_319646del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,588 | 319,646 |
nssv15765041 | Remapped | Perfect | NC_000004.12:g.347 78259_34827317del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,778,259 | 34,827,317 |
nssv15765041 | Submitted genomic | NC_000004.11:g.347 79881_34828939del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,881 | 34,828,939 |