nsv2781950
- 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: 164 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 24 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781950 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 178,043,835 | 178,043,835 | + |
nsv2781950 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 178,043,837 | 178,043,837 | - |
nsv2781950 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 194,225,340 | 194,225,340 | - |
nsv2781950 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 194,225,342 | 194,225,342 | + |
nsv2781950 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 178,012,970 | 178,012,970 | + | ||
nsv2781950 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 178,012,972 | 178,012,972 | - | ||
nsv2781950 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 194,194,470 | 194,194,470 | - | ||
nsv2781950 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 194,194,472 | 194,194,472 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660412 | inversion | ROC55 | Sequencing | Split read and paired-end mapping | SCV000320946 | nssv13660413 |
nssv13660413 | inversion | ROC55 | Sequencing | Split read and paired-end mapping | SCV000320946 | nssv13660412 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13660412 | Remapped | Perfect | NC_000001.11:g.178 043835inv462NC_000 001.11:g.194225340 inv462 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,043,835 | 178,043,835 |
nssv13660413 | Remapped | Perfect | NC_000001.11:g.178 043837inv494NC_000 001.11:g.194225342 inv494 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,043,837 | 178,043,837 |
nssv13660412 | Remapped | Perfect | NC_000001.11:g.178 043835inv462NC_000 001.11:g.194225340 inv462 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 194,225,340 | 194,225,340 |
nssv13660413 | Remapped | Perfect | NC_000001.11:g.178 043837inv494NC_000 001.11:g.194225342 inv494 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 194,225,342 | 194,225,342 |
nssv13660412 | Submitted genomic | [NC_000001.10:g.17 8012970inv462];[NC _000001.10:g.19419 4470inv462] | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,012,970 | 178,012,970 | ||
nssv13660413 | Submitted genomic | [NC_000001.10:g.17 8012972inv494];[NC _000001.10:g.19419 4472inv494] | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,012,972 | 178,012,972 | ||
nssv13660412 | Submitted genomic | [NC_000001.10:g.17 8012970inv462];[NC _000001.10:g.19419 4470inv462] | GRCh37 (hg19) | NC_000001.10 | Chr1 | 194,194,470 | 194,194,470 | ||
nssv13660413 | Submitted genomic | [NC_000001.10:g.17 8012972inv494];[NC _000001.10:g.19419 4472inv494] | GRCh37 (hg19) | NC_000001.10 | Chr1 | 194,194,472 | 194,194,472 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Sample ID | HGVS | Type | Clinical Interpretation | ClinVar ID | Gender | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|
nssv13660412 | ROC55 | GRCh37: [NC_000001.10:g.178012970inv462];[NC_000001.10:g.194194470inv462] | inversion | SCV000320946 | Male | nssv13660413 | |
nssv13660413 | ROC55 | GRCh37: [NC_000001.10:g.178012972inv494];[NC_000001.10:g.194194472inv494] | inversion | SCV000320946 | Male | nssv13660412 |