nsv2781995
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- 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: 123 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 205 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781995 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 47,734,357 | 47,734,357 | + |
nsv2781995 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 47,734,362 | 47,734,362 | + |
nsv2781995 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 7,063,021 | 7,063,021 | + |
nsv2781995 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 7,063,023 | 7,063,023 | + |
nsv2781995 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 48,200,029 | 48,200,029 | + | ||
nsv2781995 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 48,200,034 | 48,200,034 | + | ||
nsv2781995 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 7,104,708 | 7,104,708 | + | ||
nsv2781995 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 7,104,710 | 7,104,710 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660557 | interchromosomal translocation | UTR18 | Sequencing | Split read and paired-end mapping | SCV000320988 | nssv13660556 |
nssv13660556 | interchromosomal translocation | UTR18 | Sequencing | Split read and paired-end mapping | SCV000320988 | nssv13660557 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660557 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 47,734,357 | 47,734,357 | + |
nssv13660556 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 47,734,362 | 47,734,362 | + |
nssv13660556 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 7,063,021 | 7,063,021 | + |
nssv13660557 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 7,063,023 | 7,063,023 | + |
nssv13660557 | Submitted genomic | GRCh37 (hg19) | NC_000001.10 | Chr1 | 48,200,029 | 48,200,029 | + | ||
nssv13660556 | Submitted genomic | GRCh37 (hg19) | NC_000001.10 | Chr1 | 48,200,034 | 48,200,034 | + | ||
nssv13660556 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 7,104,708 | 7,104,708 | + | ||
nssv13660557 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 7,104,710 | 7,104,710 | + |
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 |
---|---|---|---|---|---|---|
nssv13660557 | UTR18 | interchromosomal translocation | SCV000320988 | Male | nssv13660556 | |
nssv13660556 | UTR18 | interchromosomal translocation | SCV000320988 | Male | nssv13660557 |