nsv6314386
- 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;XY;ins(7;10)(q32;q22.1q24.3);t(9;16)(q22;q1
2.1)dn AND multiple conditions - Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016
- ClinVar: RCV000258550.2
- ClinVar: VCV000267922.1
- HP: 0000316
- HP: 0000325
- HP: 0000331
- HP: 0000369
- HP: 0000735
- HP: 0000750
- HP: 0000817
- HP: 0001252
- HP: 0001263
- HP: 0001270
- HP: 0002007
- HP: 0002305
- HP: 0005280
- HP: 0007738
- HP: 0011220
- MedGen: C0004158
- MedGen: C0020534
- MedGen: C0026827
- MedGen: C0150080
- MedGen: C0221354
- MedGen: C0239234
- MedGen: C0454644
- MedGen: C0557874
- MedGen: C1445953
- MedGen: C1835884
- MedGen: C1836542
- MedGen: C1837260
- MedGen: C1854301
- MedGen: C1854686
- MedGen: C3697248
- OMIM: 145400
- 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: 161 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 19 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv6314386 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 119,198,438 | 119,198,438 | + |
nsv6314386 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 119,198,536 | 119,198,536 | + |
nsv6314386 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 102,842,491 | 102,842,491 | + |
nsv6314386 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 102,842,491 | 102,842,491 | + |
nsv6314386 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 48,925,282 | 48,925,282 | + |
nsv6314386 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 48,925,288 | 48,925,288 | + |
nsv6314386 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 84,762,420 | 84,762,420 | + |
nsv6314386 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 84,763,363 | 84,763,363 | + |
nsv6314386 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 55,052,894 | 55,052,894 | + |
nsv6314386 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 55,052,894 | 55,052,894 | + |
nsv6314386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 118,838,492 | 118,838,492 | + | ||
nsv6314386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 118,838,590 | 118,838,590 | + | ||
nsv6314386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 105,604,773 | 105,604,773 | + | ||
nsv6314386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 105,604,773 | 105,604,773 | + | ||
nsv6314386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 50,133,327 | 50,133,327 | + | ||
nsv6314386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 50,133,333 | 50,133,333 | + | ||
nsv6314386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 86,522,176 | 86,522,176 | + | ||
nsv6314386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 86,523,119 | 86,523,119 | + | ||
nsv6314386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 55,086,806 | 55,086,806 | + | ||
nsv6314386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 55,086,806 | 55,086,806 | + |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv17975300 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 119,198,438 | 119,198,438 | + |
nssv17975299 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 119,198,536 | 119,198,536 | + |
nssv17975301 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 102,842,491 | 102,842,491 | + |
nssv17975303 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 102,842,491 | 102,842,491 | + |
nssv17975299 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 48,925,282 | 48,925,282 | + |
nssv17975302 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 48,925,288 | 48,925,288 | + |
nssv17975302 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 84,762,420 | 84,762,420 | + |
nssv17975300 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 84,763,363 | 84,763,363 | + |
nssv17975301 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 55,052,894 | 55,052,894 | + |
nssv17975303 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 55,052,894 | 55,052,894 | + |
nssv17975300 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 118,838,492 | 118,838,492 | + | ||
nssv17975299 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 118,838,590 | 118,838,590 | + | ||
nssv17975301 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 105,604,773 | 105,604,773 | + | ||
nssv17975303 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 105,604,773 | 105,604,773 | + | ||
nssv17975299 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 50,133,327 | 50,133,327 | + | ||
nssv17975302 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 50,133,333 | 50,133,333 | + | ||
nssv17975302 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 86,522,176 | 86,522,176 | + | ||
nssv17975300 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 86,523,119 | 86,523,119 | + | ||
nssv17975301 | Submitted genomic | GRCh37 (hg19) | NC_000016.9 | Chr16 | 55,086,806 | 55,086,806 | + | ||
nssv17975303 | Submitted genomic | GRCh37 (hg19) | NC_000016.9 | Chr16 | 55,086,806 | 55,086,806 | + |