nsv7397
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:10
- Validation:Yes
- Clinical Assertions: No
- Region Size:143,448
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_000047249600_H23'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048223800_B7'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048016000_A8'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049376300_I17'
- TRACE: TEMPLATE_ID='165431_ABC7_000042424700_H4'
- TRACE: TEMPLATE_ID='165434_ABC7_000042454400_N22'
- TRACE: TEMPLATE_ID='165690_ABC7_000042492400_G12'
- TRACE: TEMPLATE_ID='165728_ABC7_000042510000_M7'
- TRACE: TEMPLATE_ID='166752_ABC7_000043057100_P16'
- TRACE: TEMPLATE_ID='166791_ABC7_000043066700_J9'
- TRACE: TEMPLATE_ID='167000_ABC8_000002120940_F5'
- TRACE: TEMPLATE_ID='167000_ABC8_000002124740_K24'
- TRACE: TEMPLATE_ID='167000_ABC8_000002144440_M5'
- TRACE: TEMPLATE_ID='167098_ABC8_000040857000_N22'
- TRACE: TEMPLATE_ID='167098_ABC8_000041070900_I21'
- TRACE: TEMPLATE_ID='167098_ABC8_000041079300_A14'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000000786722_B24'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041083900_A17'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041084800_E17'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041101000_L4'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000043984400_I2'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000044035000_N8'
- TRACE: TEMPLATE_ID='174779_ABC12_000046815800_G6'
- TRACE: TEMPLATE_ID='174779_ABC12_000046852200_B3'
- TRACE: TEMPLATE_ID='174779_ABC12_000046907600_M9'
- TRACE: TEMPLATE_ID='174779_ABC12_000046970600_M1'
- TRACE: TEMPLATE_ID='174779_ABC12_000046972800_I13'
- TRACE: TEMPLATE_ID='174779_ABC12_000049053000_E4'
- TRACE: TEMPLATE_ID='174779_ABC12_000049077900_D7'
- TRACE: TEMPLATE_ID='174779_ABC12_000049208600_M19'
- TRACE: TEMPLATE_ID='174779_ABC12_000049213600_K6'
- TRACE: TEMPLATE_ID='174779_ABC12_000049223800_K8'
- TRACE: TEMPLATE_ID='178925_ABC12_000049284400_E13'
- TRACE: TEMPLATE_ID='G248P801165F8'
- TRACE: TEMPLATE_ID='G248P801248E3'
- TRACE: TEMPLATE_ID='G248P801966G3'
- TRACE: TEMPLATE_ID='G248P80233B10'
- TRACE: TEMPLATE_ID='G248P802760E8'
- TRACE: TEMPLATE_ID='G248P87037E7'
- TRACE: TEMPLATE_ID='G248P87866A4'
- 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: 430 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 430 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7397 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 54,199,302 | 54,342,749 |
| nsv7397 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 54,266,995 | 54,410,442 |
| nsv7397 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 54,041,204 | 54,184,651 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv11143 | inversion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
| nssv2650 | inversion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv9439 | inversion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
| nssv3530 | inversion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv9711 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv9712 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv9440 | inversion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
| nssv10545 | inversion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv11144 | inversion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
| nssv3531 | inversion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv11143 | Remapped | Perfect | NC_000007.14:g.(54 199302_?)_(?_54302 405)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,199,302 | 54,302,405 |
| nssv2650 | Remapped | Perfect | NC_000007.14:g.(54 201312_?)_(?_54300 491)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,201,312 | 54,300,491 |
| nssv9439 | Remapped | Perfect | NC_000007.14:g.(54 201332_?)_(?_54298 648)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,201,332 | 54,298,648 |
| nssv3530 | Remapped | Perfect | NC_000007.14:g.(54 202210_?)_(?_54302 295)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,202,210 | 54,302,295 |
| nssv9711 | Remapped | Perfect | NC_000007.14:g.(54 207501_?)_(?_54296 702)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,207,501 | 54,296,702 |
| nssv9712 | Remapped | Perfect | NC_000007.14:g.(54 235041_?)_(?_54342 749)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,235,041 | 54,342,749 |
| nssv9440 | Remapped | Perfect | NC_000007.14:g.(54 236703_?)_(?_54339 415)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,236,703 | 54,339,415 |
| nssv10545 | Remapped | Perfect | NC_000007.14:g.(54 237198_?)_(?_54341 047)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,237,198 | 54,341,047 |
| nssv11144 | Remapped | Perfect | NC_000007.14:g.(54 241280_?)_(?_54342 697)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,241,280 | 54,342,697 |
| nssv3531 | Remapped | Perfect | NC_000007.14:g.(54 249535_?)_(?_54332 641)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,249,535 | 54,332,641 |
| nssv11143 | Remapped | Perfect | NC_000007.13:g.(54 266995_?)_(?_54370 098)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 54,266,995 | 54,370,098 |
| nssv2650 | Remapped | Perfect | NC_000007.13:g.(54 269005_?)_(?_54368 184)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 54,269,005 | 54,368,184 |
| nssv9439 | Remapped | Perfect | NC_000007.13:g.(54 269025_?)_(?_54366 341)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 54,269,025 | 54,366,341 |
| nssv3530 | Remapped | Perfect | NC_000007.13:g.(54 269903_?)_(?_54369 988)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 54,269,903 | 54,369,988 |
| nssv9711 | Remapped | Perfect | NC_000007.13:g.(54 275194_?)_(?_54364 395)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 54,275,194 | 54,364,395 |
| nssv9712 | Remapped | Perfect | NC_000007.13:g.(54 302734_?)_(?_54410 442)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 54,302,734 | 54,410,442 |
| nssv9440 | Remapped | Perfect | NC_000007.13:g.(54 304396_?)_(?_54407 108)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 54,304,396 | 54,407,108 |
| nssv10545 | Remapped | Perfect | NC_000007.13:g.(54 304891_?)_(?_54408 740)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 54,304,891 | 54,408,740 |
| nssv11144 | Remapped | Perfect | NC_000007.13:g.(54 308973_?)_(?_54410 390)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 54,308,973 | 54,410,390 |
| nssv3531 | Remapped | Perfect | NC_000007.13:g.(54 317228_?)_(?_54400 334)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 54,317,228 | 54,400,334 |
| nssv11143 | Submitted genomic | NC_000007.11:g.(54 041204_?)_(?_54144 307)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 54,041,204 | 54,144,307 | ||
| nssv2650 | Submitted genomic | NC_000007.11:g.(54 043214_?)_(?_54142 393)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 54,043,214 | 54,142,393 | ||
| nssv9439 | Submitted genomic | NC_000007.11:g.(54 043234_?)_(?_54140 550)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 54,043,234 | 54,140,550 | ||
| nssv3530 | Submitted genomic | NC_000007.11:g.(54 044112_?)_(?_54144 197)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 54,044,112 | 54,144,197 | ||
| nssv9711 | Submitted genomic | NC_000007.11:g.(54 049403_?)_(?_54138 604)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 54,049,403 | 54,138,604 | ||
| nssv9712 | Submitted genomic | NC_000007.11:g.(54 076943_?)_(?_54184 651)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 54,076,943 | 54,184,651 | ||
| nssv9440 | Submitted genomic | NC_000007.11:g.(54 078605_?)_(?_54181 317)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 54,078,605 | 54,181,317 | ||
| nssv10545 | Submitted genomic | NC_000007.11:g.(54 079100_?)_(?_54182 949)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 54,079,100 | 54,182,949 | ||
| nssv11144 | Submitted genomic | NC_000007.11:g.(54 083182_?)_(?_54184 599)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 54,083,182 | 54,184,599 | ||
| nssv3531 | Submitted genomic | NC_000007.11:g.(54 091437_?)_(?_54174 543)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 54,091,437 | 54,174,543 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv2650 | 3 | NA18555 | Multiple complete digestion | MCD analysis | Pass |
| nssv11143 | 3 | SAMN00000376 | Multiple complete digestion | MCD analysis | Pass |