nsv6314536
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex chromosomal rearrangement
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:
46;XY;inv(7)(p15q34)mat AND multiple conditions - 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: 71 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6314536 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 121,984,561 | 121,984,561 | + |
| nsv6314536 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 121,984,564 | 121,984,564 | - |
| nsv6314536 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 52,374,137 | 52,374,137 | + |
| nsv6314536 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 52,374,139 | 52,374,139 | - |
| nsv6314536 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 121,624,615 | 121,624,615 | + | ||
| nsv6314536 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 121,624,618 | 121,624,618 | - | ||
| nsv6314536 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 52,441,833 | 52,441,833 | + | ||
| nsv6314536 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 52,441,835 | 52,441,835 | - |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17975927 | inversion | Multiple | Multiple | Aggressive behavior; Aggressive behavior; Dyscalculia; Dyscalculia; Expressive language delay; Expressive language delay; Joint hypermobility; Joint hypermobility; Poor fine motor coordination; Poor fine motor coordination | Likely pathogenic | ClinVar | RCV000258743.1, VCV000267898.1 |
| nssv17975928 | inversion | Multiple | Multiple | Aggressive behavior; Aggressive behavior; Dyscalculia; Dyscalculia; Expressive language delay; Expressive language delay; Joint hypermobility; Joint hypermobility; Poor fine motor coordination; Poor fine motor coordination | Likely pathogenic | ClinVar | RCV000258743.1, VCV000267898.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17975927 | Remapped | Perfect | NC_000007.14:g.523 74137inv1056NC_000 007.14:g.121984564 inv1056 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 52,374,137 | 52,374,137 |
| nssv17975928 | Remapped | Perfect | NC_000007.14:g.121 984561inv1048NC_00 0007.14:g.52374139 inv1048 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 52,374,139 | 52,374,139 |
| nssv17975928 | Remapped | Perfect | NC_000007.14:g.121 984561inv1048NC_00 0007.14:g.52374139 inv1048 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 121,984,561 | 121,984,561 |
| nssv17975927 | Remapped | Perfect | NC_000007.14:g.523 74137inv1056NC_000 007.14:g.121984564 inv1056 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 121,984,564 | 121,984,564 |
| nssv17975927 | Submitted genomic | NC_000007.13:g.524 41833inv1056NC_000 007.13:g.121624618 inv1056 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 52,441,833 | 52,441,833 | ||
| nssv17975928 | Submitted genomic | NC_000007.13:g.524 41835inv1048NC_000 007.13:g.121624615 inv1048 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 52,441,835 | 52,441,835 | ||
| nssv17975928 | Submitted genomic | NC_000007.13:g.524 41835inv1048NC_000 007.13:g.121624615 inv1048 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 121,624,615 | 121,624,615 | ||
| nssv17975927 | Submitted genomic | NC_000007.13:g.524 41833inv1056NC_000 007.13:g.121624618 inv1056 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 121,624,618 | 121,624,618 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17975927 | GRCh37: NC_000007.13:g.52441833inv1056NC_000007.13:g.121624618inv1056 | inversion | maternal | Aggressive behavior; Aggressive behavior; Dyscalculia; Dyscalculia; Expressive language delay; Expressive language delay; Joint hypermobility; Joint hypermobility; Poor fine motor coordination; Poor fine motor coordination | Likely pathogenic | ClinVar | RCV000258743.1, VCV000267898.1 |
| nssv17975928 | GRCh37: NC_000007.13:g.52441835inv1048NC_000007.13:g.121624615inv1048 | inversion | maternal | Aggressive behavior; Aggressive behavior; Dyscalculia; Dyscalculia; Expressive language delay; Expressive language delay; Joint hypermobility; Joint hypermobility; Poor fine motor coordination; Poor fine motor coordination | Likely pathogenic | ClinVar | RCV000258743.1, VCV000267898.1 |