nsv324
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:6
- Validation:Yes
- Clinical Assertions: No
- Region Size:37,414
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_000047216000_C15'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048012200_H22'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048025100_J10'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049376300_M6'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000049738300_D23'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000048728500_C8'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000000988022_H3'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000000951414_L22'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000008071949_E24'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000008075749_A18'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050186800_M1'
- TRACE: TEMPLATE_ID='165766_ABC8_000005697049_M6'
- TRACE: TEMPLATE_ID='166910_ABC8_000042070700_P15'
- TRACE: TEMPLATE_ID='167000_ABC8_000002625640_D4'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000000714822_M18'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041119500_I9'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000041241600_N21'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043836000_A12'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043838300_L7'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043873800_L24'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000045432900_N15'
- TRACE: TEMPLATE_ID='174779_ABC12_000046344700_A10'
- TRACE: TEMPLATE_ID='174779_ABC12_000046412600_B5'
- 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: 187 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv324 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 56,351,466 | - | 56,388,879 |
| nsv324 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 162,215 | 187,300 | - |
| nsv324 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 56,118,942 | - | 56,156,355 |
| nsv324 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 162,215 | 200,998 | - |
| nsv324 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 55,875,518 | - | 55,912,931 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3951 | insertion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv5357 | insertion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv6459 | insertion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv10820 | insertion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv2866 | insertion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv9822 | insertion | NA18507 | Sequencing | Paired-end mapping | 489 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv3951 | Remapped | Pass | NW_003871073.1:g.( 162215_?)_(187300_ ?)ins8982 | GRCh38.p12 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 162,215 | 187,300 | - |
| nssv5357 | Remapped | Pass | NW_003871073.1:g.( 165351_?)_(187300_ ?)ins6951 | GRCh38.p12 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 165,351 | 187,300 | - |
| nssv6459 | Remapped | Pass | NW_003871073.1:g.( 183022_?)_(187300_ ?)ins8978 | GRCh38.p12 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 183,022 | 187,300 | - |
| nssv3951 | Remapped | Perfect | NC_000011.10:g.(56 351466_?)_(?_56381 720)ins8982 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,351,466 | - | 56,381,720 |
| nssv5357 | Remapped | Perfect | NC_000011.10:g.(56 354602_?)_(?_56380 151)ins6951 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,354,602 | - | 56,380,151 |
| nssv10820 | Remapped | Perfect | NC_000011.10:g.(56 370367_?)_(?_56382 599)ins8764 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,370,367 | - | 56,382,599 |
| nssv6459 | Remapped | Perfect | NC_000011.10:g.(56 372273_?)_(?_56377 420)ins8978 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,372,273 | - | 56,377,420 |
| nssv2866 | Remapped | Perfect | NC_000011.10:g.(56 373808_?)_(?_56377 845)ins6547 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,373,808 | - | 56,377,845 |
| nssv9822 | Remapped | Perfect | NC_000011.10:g.(56 374763_?)_(?_56388 879)ins13337 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,374,763 | - | 56,388,879 |
| nssv3951 | Remapped | Pass | NW_003871073.1:g.( 162215_?)_(?_20007 5)ins8982 | GRCh37.p13 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 162,215 | - | 200,075 |
| nssv5357 | Remapped | Pass | NW_003871073.1:g.( 165351_?)_(?_19850 6)ins6951 | GRCh37.p13 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 165,351 | - | 198,506 |
| nssv10820 | Remapped | Pass | NW_003871073.1:g.( 181116_?)_(?_20095 4)ins8764 | GRCh37.p13 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 181,116 | - | 200,954 |
| nssv6459 | Remapped | Pass | NW_003871073.1:g.( 183022_?)_(?_19577 5)ins8978 | GRCh37.p13 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 183,022 | - | 195,775 |
| nssv2866 | Remapped | Pass | NW_003871073.1:g.( 184557_?)_(?_19620 0)ins6547 | GRCh37.p13 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 184,557 | - | 196,200 |
| nssv9822 | Remapped | Pass | NW_003871073.1:g.( 185512_?)_(200998_ ?)ins13337 | GRCh37.p13 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 185,512 | 200,998 | - |
| nssv3951 | Remapped | Perfect | NC_000011.9:g.(561 18942_?)_(?_561491 96)ins8982 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 56,118,942 | - | 56,149,196 |
| nssv5357 | Remapped | Perfect | NC_000011.9:g.(561 22078_?)_(?_561476 27)ins6951 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 56,122,078 | - | 56,147,627 |
| nssv10820 | Remapped | Perfect | NC_000011.9:g.(561 37843_?)_(?_561500 75)ins8764 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 56,137,843 | - | 56,150,075 |
| nssv6459 | Remapped | Perfect | NC_000011.9:g.(561 39749_?)_(?_561448 96)ins8978 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 56,139,749 | - | 56,144,896 |
| nssv2866 | Remapped | Perfect | NC_000011.9:g.(561 41284_?)_(?_561453 21)ins6547 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 56,141,284 | - | 56,145,321 |
| nssv9822 | Remapped | Perfect | NC_000011.9:g.(561 42239_?)_(?_561563 55)ins13337 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 56,142,239 | - | 56,156,355 |
| nssv3951 | Submitted genomic | NC_000011.8:g.(558 75518_?)_(?_559057 72)ins8982 | NCBI35 (hg17) | NC_000011.8 | Chr11 | 55,875,518 | - | 55,905,772 | ||
| nssv5357 | Submitted genomic | NC_000011.8:g.(558 78654_?)_(?_559042 03)ins6951 | NCBI35 (hg17) | NC_000011.8 | Chr11 | 55,878,654 | - | 55,904,203 | ||
| nssv10820 | Submitted genomic | NC_000011.8:g.(558 94419_?)_(?_559066 51)ins8764 | NCBI35 (hg17) | NC_000011.8 | Chr11 | 55,894,419 | - | 55,906,651 | ||
| nssv6459 | Submitted genomic | NC_000011.8:g.(558 96325_?)_(?_559014 72)ins8978 | NCBI35 (hg17) | NC_000011.8 | Chr11 | 55,896,325 | - | 55,901,472 | ||
| nssv2866 | Submitted genomic | NC_000011.8:g.(558 97860_?)_(?_559018 97)ins6547 | NCBI35 (hg17) | NC_000011.8 | Chr11 | 55,897,860 | - | 55,901,897 | ||
| nssv9822 | Submitted genomic | NC_000011.8:g.(558 98815_?)_(?_559129 31)ins13337 | NCBI35 (hg17) | NC_000011.8 | Chr11 | 55,898,815 | - | 55,912,931 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv9822 | 3 | NA18507 | Multiple complete digestion | MCD analysis | Pass |
| nssv10820 | 3 | NA18956 | Multiple complete digestion | MCD analysis | Pass |
| nssv6459 | 4 | NA12156 | Sequencing | One end anchored assembly | Pass |
| nssv3951 | 4 | NA12878 | Sequencing | One end anchored assembly | Pass |
| nssv9822 | 4 | NA18507 | Sequencing | One end anchored assembly | Pass |
| nssv2866 | 4 | NA18555 | Sequencing | One end anchored assembly | Pass |
| nssv10820 | 4 | NA18956 | Sequencing | One end anchored assembly | Pass |
| nssv5357 | 4 | NA19129 | Sequencing | One end anchored assembly | Pass |
| nssv9822 | 2 | NA18507 | Sequencing | Sequence alignment | Pass |