nsv6314508
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex chromosomal rearrangement
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:
46;XY;t(6;9)(q16.2;q13)dn AND Autistic behavior - Publication(s):Redin et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 26 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv6314508 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 97,322,974 | 97,322,974 | + |
nsv6314508 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 97,322,985 | 97,322,985 | - |
nsv6314508 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 97,500,336 | 97,500,336 | - |
nsv6314508 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 97,500,337 | 97,500,337 | + |
nsv6314508 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 77,426,009 | 77,426,009 | + |
nsv6314508 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 77,426,009 | 77,426,009 | + |
nsv6314508 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 97,770,850 | 97,770,850 | + | ||
nsv6314508 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 97,770,861 | 97,770,861 | - | ||
nsv6314508 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 97,948,212 | 97,948,212 | - | ||
nsv6314508 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 97,948,213 | 97,948,213 | + | ||
nsv6314508 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 80,040,925 | 80,040,925 | + | ||
nsv6314508 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 80,040,925 | 80,040,925 | + |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17975375 | interchromosomal translocation | Multiple | Multiple | Autistic behavior; Autistic behavior | Uncertain significance | ClinVar | RCV000258571.1, VCV000267948.1 |
nssv17975737 | intrachromosomal translocation | Multiple | Multiple | Autistic behavior; Autistic behavior | Uncertain significance | ClinVar | RCV000258676.1, VCV000267949.1 |
nssv17975376 | interchromosomal translocation | Multiple | Multiple | Autistic behavior; Autistic behavior | Uncertain significance | ClinVar | RCV000258571.1, VCV000267948.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv17975375 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 97,322,974 | 97,322,974 | + |
nssv17975737 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 97,322,985 | 97,322,985 | - |
nssv17975376 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 97,500,336 | 97,500,336 | - |
nssv17975737 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 97,500,337 | 97,500,337 | + |
nssv17975375 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 77,426,009 | 77,426,009 | + |
nssv17975376 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 77,426,009 | 77,426,009 | + |
nssv17975375 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 97,770,850 | 97,770,850 | + | ||
nssv17975737 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 97,770,861 | 97,770,861 | - | ||
nssv17975376 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 97,948,212 | 97,948,212 | - | ||
nssv17975737 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 97,948,213 | 97,948,213 | + | ||
nssv17975375 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 80,040,925 | 80,040,925 | + | ||
nssv17975376 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 80,040,925 | 80,040,925 | + |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|
nssv17975375 | interchromosomal translocation | de novo | Autistic behavior; Autistic behavior | Uncertain significance | ClinVar | RCV000258571.1, VCV000267948.1 |
nssv17975737 | intrachromosomal translocation | de novo | Autistic behavior; Autistic behavior | Uncertain significance | ClinVar | RCV000258676.1, VCV000267949.1 |
nssv17975376 | interchromosomal translocation | de novo | Autistic behavior; Autistic behavior | Uncertain significance | ClinVar | RCV000258571.1, VCV000267948.1 |