nsv2781945
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- 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: 82 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 32 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 6,126,603 | 6,126,603 | + |
nsv2781945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 6,126,681 | 6,126,681 | + |
nsv2781945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 7,712,337 | 7,712,337 | + |
nsv2781945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 7,712,487 | 7,712,487 | + |
nsv2781945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 24,496,354 | 24,496,354 | + |
nsv2781945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 24,496,558 | 24,496,558 | + |
nsv2781945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 24,532,041 | 24,532,041 | + |
nsv2781945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 24,532,128 | 24,532,128 | + |
nsv2781945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 6,266,735 | 6,266,735 | + | ||
nsv2781945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 6,266,813 | 6,266,813 | + | ||
nsv2781945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 7,852,468 | 7,852,468 | + | ||
nsv2781945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 7,852,618 | 7,852,618 | + | ||
nsv2781945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 24,649,288 | 24,649,288 | + | ||
nsv2781945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 24,649,492 | 24,649,492 | + | ||
nsv2781945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 24,684,975 | 24,684,975 | + | ||
nsv2781945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 24,685,062 | 24,685,062 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660388 | interchromosomal translocation | ROC43 | Sequencing | Split read and paired-end mapping | SCV000320941 | nssv13660387, nssv13660401, nssv13660402 |
nssv13660401 | interchromosomal translocation | ROC43 | Sequencing | Split read and paired-end mapping | SCV000320941 | nssv13660387, nssv13660388, nssv13660402 |
nssv13660402 | interchromosomal translocation | ROC43 | Sequencing | Split read and paired-end mapping | SCV000320941 | nssv13660387, nssv13660388, nssv13660401 |
nssv13660387 | interchromosomal translocation | ROC43 | Sequencing | Split read and paired-end mapping | SCV000320941 | nssv13660388, nssv13660401, nssv13660402 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660388 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 6,126,603 | 6,126,603 | + |
nssv13660401 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 6,126,681 | 6,126,681 | + |
nssv13660402 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 7,712,337 | 7,712,337 | + |
nssv13660387 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 7,712,487 | 7,712,487 | + |
nssv13660401 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 24,496,354 | 24,496,354 | + |
nssv13660402 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 24,496,558 | 24,496,558 | + |
nssv13660387 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 24,532,041 | 24,532,041 | + |
nssv13660388 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 24,532,128 | 24,532,128 | + |
nssv13660388 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 6,266,735 | 6,266,735 | + | ||
nssv13660401 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 6,266,813 | 6,266,813 | + | ||
nssv13660402 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 7,852,468 | 7,852,468 | + | ||
nssv13660387 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 7,852,618 | 7,852,618 | + | ||
nssv13660401 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 24,649,288 | 24,649,288 | + | ||
nssv13660402 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 24,649,492 | 24,649,492 | + | ||
nssv13660387 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 24,684,975 | 24,684,975 | + | ||
nssv13660388 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 24,685,062 | 24,685,062 | + |
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 |
---|---|---|---|---|---|---|
nssv13660388 | ROC43 | interchromosomal translocation | SCV000320941 | Male | nssv13660387, nssv13660401, nssv13660402 | |
nssv13660401 | ROC43 | interchromosomal translocation | SCV000320941 | Male | nssv13660387, nssv13660388, nssv13660402 | |
nssv13660402 | ROC43 | interchromosomal translocation | SCV000320941 | Male | nssv13660387, nssv13660388, nssv13660401 | |
nssv13660387 | ROC43 | interchromosomal translocation | SCV000320941 | Male | nssv13660388, nssv13660401, nssv13660402 |