nsv7175
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:9
- Validation:Yes
- Clinical Assertions: No
- Region Size:88,969
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048026100_O6'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049614000_I6'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000047453000_K8'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000047482700_M9'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000049737600_E2'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000049767700_G18'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000001023622_G17'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048817700_H16'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050088200_L19'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050977500_O11'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050121000_G5'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050150300_L4'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050176600_K5'
- TRACE: TEMPLATE_ID='166910_ABC8_000043251800_B21'
- TRACE: TEMPLATE_ID='167098_ABC8_000040895800_O4'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000041241700_C8'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000041283600_E17'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043873800_F11'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045494600_O12'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000043350600_H17'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044482100_I15'
- TRACE: TEMPLATE_ID='174222_ABC10_2_1_000044541700_H12'
- TRACE: TEMPLATE_ID='174779_ABC12_000049047000_K6'
- TRACE: TEMPLATE_ID='174779_ABC12_000049057900_L2'
- TRACE: TEMPLATE_ID='174779_ABC12_000049063500_E24'
- TRACE: TEMPLATE_ID='174779_ABC12_000049071200_I22'
- TRACE: TEMPLATE_ID='174779_ABC12_000049097300_E21'
- 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: 406 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 407 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv7175 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 26,597,983 | - | 26,686,951 |
| nsv7175 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | 85,601 | 166,200 | - |
| nsv7175 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 26,924,474 | - | 27,013,442 |
| nsv7175 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 26,608,616 | - | 26,697,584 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv994 | inversion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv10774 | inversion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv6480 | inversion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv5431 | inversion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv6489 | inversion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv4025 | inversion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv9811 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv1994 | inversion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv5440 | inversion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv994 | Remapped | Perfect | NW_009646195.1:g.( 85601_?)_(?_134487 )inv | GRCh38.p12 | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | 85,601 | - | - | 134,487 |
| nssv10774 | Remapped | Perfect | NW_009646195.1:g.( 86700_?)_(?_135103 )inv | GRCh38.p12 | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | 86,700 | - | - | 135,103 |
| nssv6480 | Remapped | Perfect | NW_009646195.1:g.( 89089_?)_(?_134395 )inv | GRCh38.p12 | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | 89,089 | - | - | 134,395 |
| nssv5431 | Remapped | Perfect | NW_009646195.1:g.( 90337_?)_(?_134657 )inv | GRCh38.p12 | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | 90,337 | - | - | 134,657 |
| nssv6489 | Remapped | Pass | NW_009646195.1:g.( 128550_?)_(166200_ ?)inv | GRCh38.p12 | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | 128,550 | - | 166,200 | - |
| nssv4025 | Remapped | Pass | NW_009646195.1:g.( 128693_?)_(166200_ ?)inv | GRCh38.p12 | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | 128,693 | - | 166,200 | - |
| nssv9811 | Remapped | Pass | NW_009646195.1:g.( 128906_?)_(166200_ ?)inv | GRCh38.p12 | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | 128,906 | - | 166,200 | - |
| nssv1994 | Remapped | Pass | NW_009646195.1:g.( 128993_?)_(166200_ ?)inv | GRCh38.p12 | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | 128,993 | - | 166,200 | - |
| nssv5440 | Remapped | Pass | NW_009646195.1:g.( ?_134046)_(166200_ ?)inv | GRCh38.p12 | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | - | 134,046 | 166,200 | - |
| nssv994 | Remapped | Perfect | NC_000001.11:g.(26 597983_?)_(?_26646 869)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 26,597,983 | - | - | 26,646,869 |
| nssv10774 | Remapped | Perfect | NC_000001.11:g.(26 599082_?)_(?_26647 485)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 26,599,082 | - | - | 26,647,485 |
| nssv6480 | Remapped | Perfect | NC_000001.11:g.(26 601471_?)_(?_26646 777)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 26,601,471 | - | - | 26,646,777 |
| nssv5431 | Remapped | Perfect | NC_000001.11:g.(26 602719_?)_(?_26647 039)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 26,602,719 | - | - | 26,647,039 |
| nssv6489 | Remapped | Perfect | NC_000001.11:g.(26 640932_?)_(?_26685 717)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 26,640,932 | - | - | 26,685,717 |
| nssv4025 | Remapped | Perfect | NC_000001.11:g.(26 641075_?)_(?_26685 413)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 26,641,075 | - | - | 26,685,413 |
| nssv9811 | Remapped | Perfect | NC_000001.11:g.(26 641288_?)_(?_26686 951)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 26,641,288 | - | - | 26,686,951 |
| nssv1994 | Remapped | Perfect | NC_000001.11:g.(26 641369_?)_(?_26686 738)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 26,641,369 | - | - | 26,686,738 |
| nssv5440 | Remapped | Perfect | NC_000001.11:g.(26 644041_?)_(?_26682 913)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 26,644,041 | - | - | 26,682,913 |
| nssv994 | Remapped | Perfect | NC_000001.10:g.(26 924474_?)_(?_26973 360)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 26,924,474 | - | - | 26,973,360 |
| nssv10774 | Remapped | Perfect | NC_000001.10:g.(26 925573_?)_(?_26973 976)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 26,925,573 | - | - | 26,973,976 |
| nssv6480 | Remapped | Perfect | NC_000001.10:g.(26 927962_?)_(?_26973 268)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 26,927,962 | - | - | 26,973,268 |
| nssv5431 | Remapped | Perfect | NC_000001.10:g.(26 929210_?)_(?_26973 530)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 26,929,210 | - | - | 26,973,530 |
| nssv6489 | Remapped | Perfect | NC_000001.10:g.(26 967423_?)_(?_27012 208)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 26,967,423 | - | - | 27,012,208 |
| nssv4025 | Remapped | Perfect | NC_000001.10:g.(26 967566_?)_(?_27011 904)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 26,967,566 | - | - | 27,011,904 |
| nssv9811 | Remapped | Perfect | NC_000001.10:g.(26 967779_?)_(?_27013 442)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 26,967,779 | - | - | 27,013,442 |
| nssv1994 | Remapped | Perfect | NC_000001.10:g.(26 967860_?)_(?_27013 229)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 26,967,860 | - | - | 27,013,229 |
| nssv5440 | Remapped | Perfect | NC_000001.10:g.(26 970532_?)_(?_27009 404)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 26,970,532 | - | - | 27,009,404 |
| nssv994 | Submitted genomic | NC_000001.8:g.(266 08616_?)_(?_266575 02)inv | NCBI35 (hg17) | NC_000001.8 | Chr1 | 26,608,616 | - | - | 26,657,502 | ||
| nssv10774 | Submitted genomic | NC_000001.8:g.(266 09715_?)_(?_266581 18)inv | NCBI35 (hg17) | NC_000001.8 | Chr1 | 26,609,715 | - | - | 26,658,118 | ||
| nssv6480 | Submitted genomic | NC_000001.8:g.(266 12104_?)_(?_266574 10)inv | NCBI35 (hg17) | NC_000001.8 | Chr1 | 26,612,104 | - | - | 26,657,410 | ||
| nssv5431 | Submitted genomic | NC_000001.8:g.(266 13352_?)_(?_266576 72)inv | NCBI35 (hg17) | NC_000001.8 | Chr1 | 26,613,352 | - | - | 26,657,672 | ||
| nssv6489 | Submitted genomic | NC_000001.8:g.(266 51565_?)_(?_266963 50)inv | NCBI35 (hg17) | NC_000001.8 | Chr1 | 26,651,565 | - | - | 26,696,350 | ||
| nssv4025 | Submitted genomic | NC_000001.8:g.(266 51708_?)_(?_266960 46)inv | NCBI35 (hg17) | NC_000001.8 | Chr1 | 26,651,708 | - | - | 26,696,046 | ||
| nssv9811 | Submitted genomic | NC_000001.8:g.(266 51921_?)_(?_266975 84)inv | NCBI35 (hg17) | NC_000001.8 | Chr1 | 26,651,921 | - | - | 26,697,584 | ||
| nssv1994 | Submitted genomic | NC_000001.8:g.(266 52002_?)_(?_266973 71)inv | NCBI35 (hg17) | NC_000001.8 | Chr1 | 26,652,002 | - | - | 26,697,371 | ||
| nssv5440 | Submitted genomic | NC_000001.8:g.(266 54674_?)_(?_266935 46)inv | NCBI35 (hg17) | NC_000001.8 | Chr1 | 26,654,674 | - | - | 26,693,546 |