nsv2781819
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Publication(s):Redin et al. 2016
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: 137 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 19 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781819 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 22,580,380 | 22,580,380 | + |
nsv2781819 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 22,580,380 | 22,580,380 | - |
nsv2781819 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 31,095,459 | 31,095,459 | + |
nsv2781819 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 31,095,460 | 31,095,460 | + |
nsv2781819 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 33,542,762 | 33,542,762 | + |
nsv2781819 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 33,542,762 | 33,542,762 | - |
nsv2781819 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 22,582,003 | 22,582,003 | + | ||
nsv2781819 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 22,582,003 | 22,582,003 | - | ||
nsv2781819 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 31,564,665 | 31,564,665 | + | ||
nsv2781819 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 31,564,666 | 31,564,666 | + | ||
nsv2781819 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 34,011,968 | 34,011,968 | + | ||
nsv2781819 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 34,011,968 | 34,011,968 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660098 | interchromosomal translocation | DGAP225 | Sequencing | Split read and paired-end mapping | SCV000320839 | nssv13660097, nssv13660099 |
nssv13660099 | interchromosomal translocation | DGAP225 | Sequencing | Split read and paired-end mapping | SCV000320839 | nssv13660097, nssv13660098 |
nssv13660097 | intrachromosomal translocation | DGAP225 | Sequencing | Split read and paired-end mapping | SCV000320839 | nssv13660098, nssv13660099 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660098 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 22,580,380 | 22,580,380 | + |
nssv13660099 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 22,580,380 | 22,580,380 | - |
nssv13660099 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 31,095,459 | 31,095,459 | + |
nssv13660097 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 31,095,460 | 31,095,460 | + |
nssv13660097 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 33,542,762 | 33,542,762 | - |
nssv13660098 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 33,542,762 | 33,542,762 | + |
nssv13660098 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 22,582,003 | 22,582,003 | + | ||
nssv13660099 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 22,582,003 | 22,582,003 | - | ||
nssv13660099 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 31,564,665 | 31,564,665 | + | ||
nssv13660097 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 31,564,666 | 31,564,666 | + | ||
nssv13660097 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 34,011,968 | 34,011,968 | - | ||
nssv13660098 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 34,011,968 | 34,011,968 | + |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Sample ID | Type | Clinical Interpretation | ClinVar ID | Gender | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660098 | DGAP225 | interchromosomal translocation | SCV000320839 | Female | nssv13660097, nssv13660099 | |
nssv13660099 | DGAP225 | interchromosomal translocation | SCV000320839 | Female | nssv13660097, nssv13660098 | |
nssv13660097 | DGAP225 | intrachromosomal translocation | SCV000320839 | Female | nssv13660098, nssv13660099 |