nsv4378
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:56,313
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048025000_L20'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049390800_N3'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049407700_L20'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049477700_H22'
- TRACE: TEMPLATE_ID='174779_ABC12_000007918849_N17'
- TRACE: TEMPLATE_ID='174779_ABC12_000046665600_I6'
- TRACE: TEMPLATE_ID='174779_ABC12_000046972800_P13'
- TRACE: TEMPLATE_ID='174779_ABC12_000047018100_A16'
- TRACE: TEMPLATE_ID='174779_ABC12_000049027500_D24'
- TRACE: TEMPLATE_ID='174779_ABC12_000049055500_G22'
- TRACE: TEMPLATE_ID='178925_ABC12_000049283100_F7'
- 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: 357 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4378 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 70,073,418 | 70,125,283 |
| nsv4378 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_013171801.1 | Chr4|NW_01 3171801.1 | 113,557 | 169,869 |
| nsv4378 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 70,939,135 | 70,991,000 |
| nsv4378 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 71,119,895 | 71,171,760 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3261 | Remapped | Pass | NW_013171801.1:g.( 113557_?)_(?_14282 8)ins4833 | GRCh38.p12 | Second Pass | NW_013171801.1 | Chr4|NW_01 3171801.1 | 113,557 | 142,828 |
| nssv3130 | Remapped | Pass | NW_013171801.1:g.( 132581_?)_(?_16986 9)ins5841 | GRCh38.p12 | Second Pass | NW_013171801.1 | Chr4|NW_01 3171801.1 | 132,581 | 169,869 |
| nssv3261 | Remapped | Perfect | NC_000004.12:g.(70 073418_?)_(?_70098 242)ins4833 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 70,073,418 | 70,098,242 |
| nssv3130 | Remapped | Perfect | NC_000004.12:g.(70 092450_?)_(?_70125 283)ins5841 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 70,092,450 | 70,125,283 |
| nssv3261 | Remapped | Perfect | NC_000004.11:g.(70 939135_?)_(?_70963 959)ins4833 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,939,135 | 70,963,959 |
| nssv3130 | Remapped | Perfect | NC_000004.11:g.(70 958167_?)_(?_70991 000)ins5841 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,958,167 | 70,991,000 |
| nssv3261 | Submitted genomic | NC_000004.9:g.(711 19895_?)_(?_711447 19)ins4833 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 71,119,895 | 71,144,719 | ||
| nssv3130 | Submitted genomic | NC_000004.9:g.(711 38927_?)_(?_711717 60)ins5841 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 71,138,927 | 71,171,760 |