nsv1159678
- 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: 328 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 326 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 34 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv1159678 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 243,714 | 243,714 | not reported |
nsv1159678 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 243,931 | 243,931 | not reported |
nsv1159678 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 195,317 | 195,317 | not reported |
nsv1159678 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 195,534 | 195,534 | not reported |
nsv1159678 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 93,505 | 93,505 | not reported | ||
nsv1159678 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 93,722 | 93,722 | not reported |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv4024740 | intrachromosomal translocation | KWS2 | Sequencing | Read depth and paired-end mapping | 21,718 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv4024740 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 195,317 | 195,317 | not reported |
nssv4024740 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 195,534 | 195,534 | not reported |
nssv4024740 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 243,714 | 243,714 | not reported |
nssv4024740 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 243,931 | 243,931 | not reported |
nssv4024740 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 93,505 | 93,505 | not reported | ||
nssv4024740 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 93,722 | 93,722 | not reported |