nsv6314331
- 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;XX;inv(2)(p23q31.3) 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: 100 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 101 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6314331 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 170,970,733 | 170,970,733 | - |
| nsv6314331 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 170,970,733 | 170,970,733 | + |
| nsv6314331 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 32,085,365 | 32,085,365 | + |
| nsv6314331 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 32,085,642 | 32,085,642 | - |
| nsv6314331 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 171,827,243 | 171,827,243 | - | ||
| nsv6314331 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 171,827,243 | 171,827,243 | + | ||
| nsv6314331 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 32,310,434 | 32,310,434 | + | ||
| nsv6314331 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 32,310,711 | 32,310,711 | - |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17975518 | inversion | Multiple | Multiple | Inability to walk; Inability to walk; Microcephaly; Microcephaly; Motor delay; Motor delay; Spasticity; Spasticity | Pathogenic | ClinVar | RCV000258616.2, VCV000267874.1 |
| nssv17975520 | inversion | Multiple | Multiple | Inability to walk; Inability to walk; Microcephaly; Microcephaly; Motor delay; Motor delay; Spasticity; Spasticity | Pathogenic | ClinVar | RCV000258616.2, VCV000267874.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17975518 | Remapped | Perfect | NC_000002.12:g.170 970733inv737NC_000 002.12:g.32085365i nv737 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,085,365 | 32,085,365 |
| nssv17975520 | Remapped | Perfect | NC_000002.12:g.320 85642inv794NC_0000 02.12:g.170970733i nv794 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,085,642 | 32,085,642 |
| nssv17975518 | Remapped | Perfect | NC_000002.12:g.170 970733inv737NC_000 002.12:g.32085365i nv737 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 170,970,733 | 170,970,733 |
| nssv17975520 | Remapped | Perfect | NC_000002.12:g.320 85642inv794NC_0000 02.12:g.170970733i nv794 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 170,970,733 | 170,970,733 |
| nssv17975518 | Submitted genomic | NC_000002.11:g.171 827243inv737NC_000 002.11:g.32310434i nv737 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,310,434 | 32,310,434 | ||
| nssv17975520 | Submitted genomic | NC_000002.11:g.323 10711inv794NC_0000 02.11:g.171827243i nv794 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,310,711 | 32,310,711 | ||
| nssv17975518 | Submitted genomic | NC_000002.11:g.171 827243inv737NC_000 002.11:g.32310434i nv737 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 171,827,243 | 171,827,243 | ||
| nssv17975520 | Submitted genomic | NC_000002.11:g.323 10711inv794NC_0000 02.11:g.171827243i nv794 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 171,827,243 | 171,827,243 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17975518 | GRCh37: NC_000002.11:g.171827243inv737NC_000002.11:g.32310434inv737 | inversion | unknown | Inability to walk; Inability to walk; Microcephaly; Microcephaly; Motor delay; Motor delay; Spasticity; Spasticity | Pathogenic | ClinVar | RCV000258616.2, VCV000267874.1 |
| nssv17975520 | GRCh37: NC_000002.11:g.32310711inv794NC_000002.11:g.171827243inv794 | inversion | unknown | Inability to walk; Inability to walk; Microcephaly; Microcephaly; Motor delay; Motor delay; Spasticity; Spasticity | Pathogenic | ClinVar | RCV000258616.2, VCV000267874.1 |