nsv7244
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Yes
- Clinical Assertions: No
- Region Size:98,808
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_000047161200_K12'
- TRACE: TEMPLATE_ID='1200277_ABC11_000047167300_J18'
- TRACE: TEMPLATE_ID='165434_ABC7_000042452200_P14'
- TRACE: TEMPLATE_ID='165972_ABC8_000042993000_F23'
- TRACE: TEMPLATE_ID='166910_ABC8_000042081700_O12'
- TRACE: TEMPLATE_ID='166910_ABC8_000043248300_C13'
- TRACE: TEMPLATE_ID='167000_ABC8_000002127040_J14'
- TRACE: TEMPLATE_ID='167000_ABC8_000002142840_M14'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041098600_I19'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041105800_F18'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041114100_P19'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041146100_M18'
- TRACE: TEMPLATE_ID='ABC7_000040254700_E16'
- 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: 964 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 964 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7244 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 63,689,425 | 63,788,232 |
| nsv7244 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 64,263,558 | 64,362,365 |
| nsv7244 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000013.9 | Chr13 | 63,161,559 | 63,260,366 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv9495 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv9292 | inversion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
| nssv9954 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv2041 | inversion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv9495 | Remapped | Perfect | NC_000013.11:g.(63 689425_?)_(?_63756 880)inv | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,689,425 | 63,756,880 |
| nssv9292 | Remapped | Perfect | NC_000013.11:g.(63 704672_?)_(?_63747 436)inv | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,704,672 | 63,747,436 |
| nssv9954 | Remapped | Perfect | NC_000013.11:g.(63 736175_?)_(?_63788 232)inv | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,736,175 | 63,788,232 |
| nssv2041 | Remapped | Perfect | NC_000013.11:g.(63 756179_?)_(?_63787 029)inv | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,756,179 | 63,787,029 |
| nssv9495 | Remapped | Perfect | NC_000013.10:g.(64 263558_?)_(?_64331 013)inv | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,263,558 | 64,331,013 |
| nssv9292 | Remapped | Perfect | NC_000013.10:g.(64 278805_?)_(?_64321 569)inv | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,278,805 | 64,321,569 |
| nssv9954 | Remapped | Perfect | NC_000013.10:g.(64 310308_?)_(?_64362 365)inv | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,310,308 | 64,362,365 |
| nssv2041 | Remapped | Perfect | NC_000013.10:g.(64 330312_?)_(?_64361 162)inv | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,330,312 | 64,361,162 |
| nssv9495 | Submitted genomic | NC_000013.9:g.(631 61559_?)_(?_632290 14)inv | NCBI35 (hg17) | NC_000013.9 | Chr13 | 63,161,559 | 63,229,014 | ||
| nssv9292 | Submitted genomic | NC_000013.9:g.(631 76806_?)_(?_632195 70)inv | NCBI35 (hg17) | NC_000013.9 | Chr13 | 63,176,806 | 63,219,570 | ||
| nssv9954 | Submitted genomic | NC_000013.9:g.(632 08309_?)_(?_632603 66)inv | NCBI35 (hg17) | NC_000013.9 | Chr13 | 63,208,309 | 63,260,366 | ||
| nssv2041 | Submitted genomic | NC_000013.9:g.(632 28313_?)_(?_632591 63)inv | NCBI35 (hg17) | NC_000013.9 | Chr13 | 63,228,313 | 63,259,163 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv9495 | 3 | NA18507 | Multiple complete digestion | MCD analysis | Pass |