nsv7357
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:8
- Validation:Yes
- Clinical Assertions: No
- Region Size:85,758
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048034400_A23'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049677000_M1'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000049723900_B18'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000049755700_B11'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000001016522_A14'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048874900_J15'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000000948914_H24'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000001050814_O9'
- TRACE: TEMPLATE_ID='166692_ABC7_000043099000_N20'
- TRACE: TEMPLATE_ID='166752_ABC7_000043057100_D15'
- TRACE: TEMPLATE_ID='166752_ABC7_000043057100_H13'
- TRACE: TEMPLATE_ID='166910_ABC8_000042094400_P1'
- TRACE: TEMPLATE_ID='167000_ABC8_000002114840_H8'
- TRACE: TEMPLATE_ID='167000_ABC8_000002606840_M8'
- TRACE: TEMPLATE_ID='167098_ABC8_000041061500_B20'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045511800_D10'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043907200_B5'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000043978100_M17'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000043998300_G5'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000044011100_A9'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000044031600_A14'
- TRACE: TEMPLATE_ID='174222_ABC10_2_1_000044544600_C22'
- 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: 345 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 345 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7357 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 187,380,305 | 187,466,062 |
| nsv7357 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 187,098,093 | 187,183,850 |
| nsv7357 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 188,580,795 | 188,666,552 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv10384 | inversion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv4702 | inversion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv7055 | inversion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv356 | inversion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv2438 | inversion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv9635 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv4703 | inversion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv9387 | 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv10384 | Remapped | Perfect | NC_000003.12:g.(18 7380305_?)_(?_1874 23396)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 187,380,305 | 187,423,396 |
| nssv4702 | Remapped | Perfect | NC_000003.12:g.(18 7383330_?)_(?_1874 21312)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 187,383,330 | 187,421,312 |
| nssv7055 | Remapped | Perfect | NC_000003.12:g.(18 7417608_?)_(?_1874 63040)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 187,417,608 | 187,463,040 |
| nssv356 | Remapped | Perfect | NC_000003.12:g.(18 7418205_?)_(?_1874 66062)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 187,418,205 | 187,466,062 |
| nssv2438 | Remapped | Perfect | NC_000003.12:g.(18 7420484_?)_(?_1874 61822)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 187,420,484 | 187,461,822 |
| nssv9635 | Remapped | Perfect | NC_000003.12:g.(18 7420571_?)_(?_1874 59924)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 187,420,571 | 187,459,924 |
| nssv4703 | Remapped | Perfect | NC_000003.12:g.(18 7421486_?)_(?_1874 61545)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 187,421,486 | 187,461,545 |
| nssv9387 | Remapped | Perfect | NC_000003.12:g.(18 7422358_?)_(?_1874 59705)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 187,422,358 | 187,459,705 |
| nssv10384 | Remapped | Perfect | NC_000003.11:g.(18 7098093_?)_(?_1871 41184)inv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 187,098,093 | 187,141,184 |
| nssv4702 | Remapped | Perfect | NC_000003.11:g.(18 7101118_?)_(?_1871 39100)inv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 187,101,118 | 187,139,100 |
| nssv7055 | Remapped | Perfect | NC_000003.11:g.(18 7135396_?)_(?_1871 80828)inv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 187,135,396 | 187,180,828 |
| nssv356 | Remapped | Perfect | NC_000003.11:g.(18 7135993_?)_(?_1871 83850)inv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 187,135,993 | 187,183,850 |
| nssv2438 | Remapped | Perfect | NC_000003.11:g.(18 7138272_?)_(?_1871 79610)inv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 187,138,272 | 187,179,610 |
| nssv9635 | Remapped | Perfect | NC_000003.11:g.(18 7138359_?)_(?_1871 77712)inv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 187,138,359 | 187,177,712 |
| nssv4703 | Remapped | Perfect | NC_000003.11:g.(18 7139274_?)_(?_1871 79333)inv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 187,139,274 | 187,179,333 |
| nssv9387 | Remapped | Perfect | NC_000003.11:g.(18 7140146_?)_(?_1871 77493)inv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 187,140,146 | 187,177,493 |
| nssv10384 | Submitted genomic | NC_000003.9:g.(188 580795_?)_(?_18862 3886)inv | NCBI35 (hg17) | NC_000003.9 | Chr3 | 188,580,795 | 188,623,886 | ||
| nssv4702 | Submitted genomic | NC_000003.9:g.(188 583820_?)_(?_18862 1802)inv | NCBI35 (hg17) | NC_000003.9 | Chr3 | 188,583,820 | 188,621,802 | ||
| nssv7055 | Submitted genomic | NC_000003.9:g.(188 618098_?)_(?_18866 3530)inv | NCBI35 (hg17) | NC_000003.9 | Chr3 | 188,618,098 | 188,663,530 | ||
| nssv356 | Submitted genomic | NC_000003.9:g.(188 618695_?)_(?_18866 6552)inv | NCBI35 (hg17) | NC_000003.9 | Chr3 | 188,618,695 | 188,666,552 | ||
| nssv2438 | Submitted genomic | NC_000003.9:g.(188 620974_?)_(?_18866 2312)inv | NCBI35 (hg17) | NC_000003.9 | Chr3 | 188,620,974 | 188,662,312 | ||
| nssv9635 | Submitted genomic | NC_000003.9:g.(188 621061_?)_(?_18866 0414)inv | NCBI35 (hg17) | NC_000003.9 | Chr3 | 188,621,061 | 188,660,414 | ||
| nssv4703 | Submitted genomic | NC_000003.9:g.(188 621976_?)_(?_18866 2035)inv | NCBI35 (hg17) | NC_000003.9 | Chr3 | 188,621,976 | 188,662,035 | ||
| nssv9387 | Submitted genomic | NC_000003.9:g.(188 622848_?)_(?_18866 0195)inv | NCBI35 (hg17) | NC_000003.9 | Chr3 | 188,622,848 | 188,660,195 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv4702 | 3 | NA19129 | Multiple complete digestion | MCD analysis | Pass |
| nssv356 | 3 | NA19240 | Multiple complete digestion | MCD analysis | Pass |
| nssv9387 | 3 | SAMN00001588 | Multiple complete digestion | MCD analysis | Pass |