nsv2781817
- 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: 110 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 112 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 64,254,366 | 64,254,366 | - |
nsv2781817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 64,254,370 | 64,254,370 | + |
nsv2781817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 94,572,549 | 94,572,549 | - |
nsv2781817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 94,572,550 | 94,572,550 | + |
nsv2781817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 64,721,084 | 64,721,084 | - | ||
nsv2781817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 64,721,088 | 64,721,088 | + | ||
nsv2781817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 95,038,886 | 95,038,886 | - | ||
nsv2781817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 95,038,887 | 95,038,887 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660093 | inversion | DGAP223 | Sequencing | Split read and paired-end mapping | SCV000320837 | nssv13660092 |
nssv13660092 | inversion | DGAP223 | Sequencing | Split read and paired-end mapping | SCV000320837 | nssv13660093 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13660093 | Remapped | Perfect | NC_000014.9:g.6425 4366inv794NC_00001 4.9:g.94572550inv7 94 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 64,254,366 | 64,254,366 |
nssv13660092 | Remapped | Perfect | NC_000014.9:g.6425 4370inv1046NC_0000 14.9:g.94572549inv 1046 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 64,254,370 | 64,254,370 |
nssv13660092 | Remapped | Perfect | NC_000014.9:g.6425 4370inv1046NC_0000 14.9:g.94572549inv 1046 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 94,572,549 | 94,572,549 |
nssv13660093 | Remapped | Perfect | NC_000014.9:g.6425 4366inv794NC_00001 4.9:g.94572550inv7 94 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 94,572,550 | 94,572,550 |
nssv13660093 | Submitted genomic | [NC_000014.8:g.647 21084inv794];[NC_0 00014.8:g.95038887 inv794] | GRCh37 (hg19) | NC_000014.8 | Chr14 | 64,721,084 | 64,721,084 | ||
nssv13660092 | Submitted genomic | [NC_000014.8:g.647 21088inv1046];[NC_ 000014.8:g.9503888 6inv1046] | GRCh37 (hg19) | NC_000014.8 | Chr14 | 64,721,088 | 64,721,088 | ||
nssv13660092 | Submitted genomic | [NC_000014.8:g.647 21088inv1046];[NC_ 000014.8:g.9503888 6inv1046] | GRCh37 (hg19) | NC_000014.8 | Chr14 | 95,038,886 | 95,038,886 | ||
nssv13660093 | Submitted genomic | [NC_000014.8:g.647 21084inv794];[NC_0 00014.8:g.95038887 inv794] | GRCh37 (hg19) | NC_000014.8 | Chr14 | 95,038,887 | 95,038,887 |
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 |
---|---|---|---|---|---|---|---|
nssv13660093 | DGAP223 | GRCh37: [NC_000014.8:g.64721084inv794];[NC_000014.8:g.95038887inv794] | inversion | SCV000320837 | Female | nssv13660092 | |
nssv13660092 | DGAP223 | GRCh37: [NC_000014.8:g.64721088inv1046];[NC_000014.8:g.95038886inv1046] | inversion | SCV000320837 | Female | nssv13660093 |