nsv7233
- 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:86,091
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050083300_E3'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050169100_D2'
- TRACE: TEMPLATE_ID='163460_ABC7_000040598100_O13'
- TRACE: TEMPLATE_ID='165728_ABC7_000042512700_B12'
- TRACE: TEMPLATE_ID='166752_ABC7_000043060300_D7'
- TRACE: TEMPLATE_ID='167098_ABC8_000041051900_O13'
- TRACE: TEMPLATE_ID='167098_ABC8_000042169900_P1'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000041244000_F3'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043891400_E3'
- 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: 466 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 466 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7233 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 86,809,713 | 86,895,803 |
| nsv7233 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_015148967.1 | Chr12|NW_0 15148967.1 | 41,504 | 127,439 |
| nsv7233 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 87,203,490 | 87,289,580 |
| nsv7233 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 85,705,958 | 85,792,048 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv6523 | inversion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv9843 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv10876 | inversion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv9286 | inversion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv6523 | Remapped | Good | NW_015148967.1:g.( 41504_?)_(?_89498) inv | GRCh38.p12 | Second Pass | NW_015148967.1 | Chr12|NW_0 15148967.1 | 41,504 | - | - | 89,498 |
| nssv9843 | Remapped | Pass | NW_015148967.1:g.( 46600_?)_(79594_?) inv | GRCh38.p12 | Second Pass | NW_015148967.1 | Chr12|NW_0 15148967.1 | 46,600 | - | 79,594 | - |
| nssv10876 | Remapped | Good | NW_015148967.1:g.( 79369_?)_(?_127439 )inv | GRCh38.p12 | Second Pass | NW_015148967.1 | Chr12|NW_0 15148967.1 | 79,369 | - | - | 127,439 |
| nssv9286 | Remapped | Pass | NW_015148967.1:g.( ?_89436)_(?_127255 )inv | GRCh38.p12 | Second Pass | NW_015148967.1 | Chr12|NW_0 15148967.1 | - | 89,436 | - | 127,255 |
| nssv6523 | Remapped | Perfect | NC_000012.12:g.(86 809713_?)_(?_86857 848)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,809,713 | - | - | 86,857,848 |
| nssv9843 | Remapped | Perfect | NC_000012.12:g.(86 814809_?)_(?_86853 955)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,814,809 | - | - | 86,853,955 |
| nssv10876 | Remapped | Perfect | NC_000012.12:g.(86 847596_?)_(?_86895 803)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,847,596 | - | - | 86,895,803 |
| nssv9286 | Remapped | Perfect | NC_000012.12:g.(86 847929_?)_(?_86895 611)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,847,929 | - | - | 86,895,611 |
| nssv6523 | Remapped | Perfect | NC_000012.11:g.(87 203490_?)_(?_87251 625)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 87,203,490 | - | - | 87,251,625 |
| nssv9843 | Remapped | Perfect | NC_000012.11:g.(87 208586_?)_(?_87247 732)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 87,208,586 | - | - | 87,247,732 |
| nssv10876 | Remapped | Perfect | NC_000012.11:g.(87 241373_?)_(?_87289 580)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 87,241,373 | - | - | 87,289,580 |
| nssv9286 | Remapped | Perfect | NC_000012.11:g.(87 241706_?)_(?_87289 388)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 87,241,706 | - | - | 87,289,388 |
| nssv6523 | Submitted genomic | NC_000012.9:g.(857 05958_?)_(?_857540 93)inv | NCBI35 (hg17) | NC_000012.9 | Chr12 | 85,705,958 | - | - | 85,754,093 | ||
| nssv9843 | Submitted genomic | NC_000012.9:g.(857 11054_?)_(?_857502 00)inv | NCBI35 (hg17) | NC_000012.9 | Chr12 | 85,711,054 | - | - | 85,750,200 | ||
| nssv10876 | Submitted genomic | NC_000012.9:g.(857 43841_?)_(?_857920 48)inv | NCBI35 (hg17) | NC_000012.9 | Chr12 | 85,743,841 | - | - | 85,792,048 | ||
| nssv9286 | Submitted genomic | NC_000012.9:g.(857 44174_?)_(?_857918 56)inv | NCBI35 (hg17) | NC_000012.9 | Chr12 | 85,744,174 | - | - | 85,791,856 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv9843 | 3 | NA18507 | Multiple complete digestion | MCD analysis | Pass |
| nssv9286 | 3 | SAMN00001588 | Multiple complete digestion | MCD analysis | Pass |