nsv4434364
- Organism: Homo sapiens
- Study:nstd172 (Deng et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:49,003
- Publication(s):Deng et al. 2019
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: 850 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 685 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 850 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4434364 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,778,319 | 34,827,321 |
nsv4434364 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,648 | 319,650 |
nsv4434364 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000004.11 | Chr4 | 34,779,941 | 34,828,943 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15751123 | deletion | NB09 | Sequencing | Sequence alignment | 582 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15751123 | Remapped | Perfect | NW_003315915.1:g.2 70648_319650del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,648 | 319,650 |
nssv15751123 | Remapped | Perfect | NC_000004.12:g.347 78319_34827321del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,778,319 | 34,827,321 |
nssv15751123 | Submitted genomic | NC_000004.11:g.347 79941_34828943del | GRCh37.p13 | NC_000004.11 | Chr4 | 34,779,941 | 34,828,943 |