nsv1159700
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Alsmadi et al. 2014
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: 189 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 193 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nsv1159700 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 15,299,364 | 15,299,364 | + |
nsv1159700 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,068,987 | 13,068,987 | + |
nsv1159700 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 15,299,363 | 15,299,363 | + | ||
nsv1159700 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 14,441,308 | 14,441,308 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv4024818 | interchromosomal translocation | KWS1 | Sequencing | Read depth and paired-end mapping | 22,470 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv4024818 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 15,299,364 | 15,299,364 | + |
nssv4024818 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,068,987 | 13,068,987 | + |
nssv4024818 | Submitted genomic | GRCh37 (hg19) | NC_000018.9 | Chr18 | 15,299,363 | 15,299,363 | + | ||
nssv4024818 | Submitted genomic | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,441,308 | 14,441,308 | + |