nsv6314498
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex chromosomal rearrangement
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:46;XX;inv(5)(q14q35)dn AND multiple conditions
- Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016
- ClinVar: RCV000258648.1
- ClinVar: VCV000267857.1
- HP: 0000347
- HP: 0000348
- HP: 0000376
- HP: 0001263
- HP: 0001508
- HP: 0001510
- HP: 0001600
- HP: 0002835
- HP: 0008551
- HP: 0010314
- HP: 0010720
- HP: 0011035
- HP: 0011380
- HP: 0011476
- HP: 0011968
- MONDO: 0010920
- MedGen: C0025990
- MedGen: C0152423
- MedGen: C0232466
- MedGen: C0239676
- MedGen: C0425772
- MedGen: C0456070
- MedGen: C0557874
- MedGen: C2315100
- MedGen: C2712334
- MedGen: C4021777
- MedGen: C4023338
- MedGen: C4023386
- MedGen: C4023580
- MedGen: C4023721
- MedGen: C4025857
- PubMed: 21956720
- PubMed: 27841880
- PubMed: 34211152
- Overlapping Genes
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: 50 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 20 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv6314498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 153,972,325 | 153,972,325 | + |
nsv6314498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 153,972,325 | 153,972,325 | - |
nsv6314498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 154,472,737 | 154,472,737 | + |
nsv6314498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 154,472,737 | 154,472,737 | + |
nsv6314498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 93,280,691 | 93,280,691 | + |
nsv6314498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 93,280,691 | 93,280,691 | + |
nsv6314498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 93,691,259 | 93,691,259 | - |
nsv6314498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 93,691,259 | 93,691,259 | + |
nsv6314498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 93,922,357 | 93,922,357 | - |
nsv6314498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 93,922,361 | 93,922,361 | - |
nsv6314498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 153,351,885 | 153,351,885 | + | ||
nsv6314498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 153,351,885 | 153,351,885 | - | ||
nsv6314498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 153,852,297 | 153,852,297 | + | ||
nsv6314498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 153,852,297 | 153,852,297 | + | ||
nsv6314498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 92,616,397 | 92,616,397 | + | ||
nsv6314498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 92,616,397 | 92,616,397 | + | ||
nsv6314498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 93,026,965 | 93,026,965 | - | ||
nsv6314498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 93,026,965 | 93,026,965 | + | ||
nsv6314498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 93,258,062 | 93,258,062 | - | ||
nsv6314498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 93,258,066 | 93,258,066 | - |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nssv17975611 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 93,280,691 | 93,280,691 | + | |
nssv17975614 | Remapped | Perfect | NC_000005.10:g.932 80691delNC_000005. 10:g.93691259del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 93,280,691 | 93,280,691 | |
nssv17975612 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 93,691,259 | 93,691,259 | - | |
nssv17975614 | Remapped | Perfect | NC_000005.10:g.932 80691delNC_000005. 10:g.93691259del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 93,691,259 | 93,691,259 | |
nssv17975613 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 93,922,357 | 93,922,357 | - | |
nssv17975611 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 93,922,361 | 93,922,361 | - | |
nssv17975612 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 153,972,325 | 153,972,325 | - | |
nssv17975615 | Remapped | Perfect | NC_000005.10:g.153 972325delNC_000005 .10:g.154472737del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 153,972,325 | 153,972,325 | |
nssv17975613 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 154,472,737 | 154,472,737 | + | |
nssv17975615 | Remapped | Perfect | NC_000005.10:g.153 972325delNC_000005 .10:g.154472737del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 154,472,737 | 154,472,737 | |
nssv17975611 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 92,616,397 | 92,616,397 | + | |||
nssv17975614 | Submitted genomic | NC_000005.9:g.9261 6397delNC_000005.9 :g.93026965del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 92,616,397 | 92,616,397 | |||
nssv17975612 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 93,026,965 | 93,026,965 | - | |||
nssv17975614 | Submitted genomic | NC_000005.9:g.9261 6397delNC_000005.9 :g.93026965del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 93,026,965 | 93,026,965 | |||
nssv17975613 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 93,258,062 | 93,258,062 | - | |||
nssv17975611 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 93,258,066 | 93,258,066 | - | |||
nssv17975612 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 153,351,885 | 153,351,885 | - | |||
nssv17975615 | Submitted genomic | NC_000005.9:g.1538 52297delNC_000005. 9:g.153351885del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 153,351,885 | 153,351,885 | |||
nssv17975613 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 153,852,297 | 153,852,297 | + | |||
nssv17975615 | Submitted genomic | NC_000005.9:g.1538 52297delNC_000005. 9:g.153351885del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 153,852,297 | 153,852,297 |