nsv7346
- 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:86,801
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='165433_ABC7_000042460500_B18'
- TRACE: TEMPLATE_ID='165532_ABC7_000042437300_H15'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000041270200_G2'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045504300_A20'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000043972900_F15'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000043623900_I17'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000043666800_M14'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044139900_F5'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044491800_I8'
- TRACE: TEMPLATE_ID='174779_ABC12_000046670400_J18'
- TRACE: TEMPLATE_ID='174779_ABC12_000046981400_L15'
- TRACE: TEMPLATE_ID='174779_ABC12_000047032000_G23'
- 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: 447 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 448 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 13 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7346 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 39,989,557 | 40,076,357 |
| nsv7346 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 41,361,484 | 41,448,284 |
| nsv7346 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000021.7 | Chr21 | 40,283,354 | 40,370,154 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv10313 | inversion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv1627 | inversion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv9369 | inversion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
| nssv4558 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv10313 | Remapped | Perfect | NC_000021.9:g.(399 89557_?)_(?_400323 09)inv | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 39,989,557 | 40,032,309 |
| nssv1627 | Remapped | Perfect | NC_000021.9:g.(399 90629_?)_(?_400316 00)inv | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 39,990,629 | 40,031,600 |
| nssv9369 | Remapped | Perfect | NC_000021.9:g.(400 29153_?)_(?_400763 57)inv | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 40,029,153 | 40,076,357 |
| nssv4558 | Remapped | Perfect | NC_000021.9:g.(400 31333_?)_(?_400701 45)inv | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 40,031,333 | 40,070,145 |
| nssv10313 | Remapped | Perfect | NC_000021.8:g.(413 61484_?)_(?_414042 36)inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,361,484 | 41,404,236 |
| nssv1627 | Remapped | Perfect | NC_000021.8:g.(413 62556_?)_(?_414035 27)inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,362,556 | 41,403,527 |
| nssv9369 | Remapped | Perfect | NC_000021.8:g.(414 01080_?)_(?_414482 84)inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,401,080 | 41,448,284 |
| nssv4558 | Remapped | Perfect | NC_000021.8:g.(414 03260_?)_(?_414420 72)inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,403,260 | 41,442,072 |
| nssv10313 | Submitted genomic | NC_000021.7:g.(402 83354_?)_(?_403261 06)inv | NCBI35 (hg17) | NC_000021.7 | Chr21 | 40,283,354 | 40,326,106 | ||
| nssv1627 | Submitted genomic | NC_000021.7:g.(402 84426_?)_(?_403253 97)inv | NCBI35 (hg17) | NC_000021.7 | Chr21 | 40,284,426 | 40,325,397 | ||
| nssv9369 | Submitted genomic | NC_000021.7:g.(403 22950_?)_(?_403701 54)inv | NCBI35 (hg17) | NC_000021.7 | Chr21 | 40,322,950 | 40,370,154 | ||
| nssv4558 | Submitted genomic | NC_000021.7:g.(403 25130_?)_(?_403639 42)inv | NCBI35 (hg17) | NC_000021.7 | Chr21 | 40,325,130 | 40,363,942 |