nsv5749
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Yes
- Clinical Assertions: No
- Region Size:79,109
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000001015314_J16'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000001015314_K19'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000041282600_L5'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043849300_F23'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043910100_L9'
- TRACE: TEMPLATE_ID='174779_ABC12_000047021700_A4'
- TRACE: TEMPLATE_ID='174779_ABC12_000049053900_D21'
- TRACE: TEMPLATE_ID='174779_ABC12_000049228500_F23'
- 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: 348 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 348 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5749 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 53,555,400 | 53,634,508 |
| nsv5749 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 53,623,093 | 53,702,201 |
| nsv5749 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 53,397,302 | 53,476,410 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv10544 | Remapped | Perfect | NC_000007.14:g.(53 555400_?)_(?_53585 889)ins7160 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 53,555,400 | 53,585,889 |
| nssv3529 | Remapped | Perfect | NC_000007.14:g.(53 580185_?)_(?_53612 926)ins5859 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 53,580,185 | 53,612,926 |
| nssv6127 | Remapped | Perfect | NC_000007.14:g.(53 601645_?)_(?_53634 508)ins6576 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 53,601,645 | 53,634,508 |
| nssv10544 | Remapped | Perfect | NC_000007.13:g.(53 623093_?)_(?_53653 582)ins7160 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 53,623,093 | 53,653,582 |
| nssv3529 | Remapped | Perfect | NC_000007.13:g.(53 647878_?)_(?_53680 619)ins5859 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 53,647,878 | 53,680,619 |
| nssv6127 | Remapped | Perfect | NC_000007.13:g.(53 669338_?)_(?_53702 201)ins6576 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 53,669,338 | 53,702,201 |
| nssv10544 | Submitted genomic | NC_000007.11:g.(53 397302_?)_(?_53427 791)ins7160 | NCBI35 (hg17) | NC_000007.11 | Chr7 | 53,397,302 | 53,427,791 | ||
| nssv3529 | Submitted genomic | NC_000007.11:g.(53 422087_?)_(?_53454 828)ins5859 | NCBI35 (hg17) | NC_000007.11 | Chr7 | 53,422,087 | 53,454,828 | ||
| nssv6127 | Submitted genomic | NC_000007.11:g.(53 443547_?)_(?_53476 410)ins6576 | NCBI35 (hg17) | NC_000007.11 | Chr7 | 53,443,547 | 53,476,410 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv10544 | 3 | NA18956 | Multiple complete digestion | MCD analysis | Pass |