nsv1078893
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:44,464
- Publication(s):Thareja et al. 2015
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: 300 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 300 SVs from 64 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1078893 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 131,777,501 | 131,821,964 |
nsv1078893 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187528.1 | Chr2|NT_18 7528.1 | 81,562 | 110,099 |
nsv1078893 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 132,535,074 | 132,579,537 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3765680 | inversion | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3765680 | Remapped | Pass | NT_187528.1:g.8156 2_110099inv | GRCh38.p12 | Second Pass | NT_187528.1 | Chr2|NT_18 7528.1 | 81,562 | 110,099 |
nssv3765680 | Remapped | Perfect | NC_000002.12:g.131 777501_131821964in v | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,777,501 | 131,821,964 |
nssv3765680 | Submitted genomic | NC_000002.11:g.132 535074_132579537in v | GRCh37 (hg19) | NC_000002.11 | Chr2 | 132,535,074 | 132,579,537 |