Variant Details

Variant: nsv1161106

Internal ID

19302663

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:68494770..68620261	hg38	UCSC Ensembl
Outer	chr4:68478894..68623617	hg38	UCSC Ensembl
Inner	chr4:69360488..69485979	hg19	UCSC Ensembl
Outer	chr4:69344612..69489335	hg19	UCSC Ensembl

Cytoband

4q13.2

Allele length

Assembly	Allele length
hg38	144724
hg19	144724

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4029052, nssv4029100, nssv4029116, nssv4029033, nssv4029030, nssv4029081, nssv4029102, nssv4029021, nssv4029051, nssv4029060, nssv4029101, nssv4029012, nssv4029104, nssv4029026, nssv4029023, nssv4029118, nssv4029092, nssv4029047, nssv4029041, nssv4029058, nssv4029006, nssv4029079, nssv4029094, nssv4029080, nssv4032812, nssv4029022, nssv4029018, nssv4032813, nssv4029062, nssv4029049, nssv4029070, nssv4029001, nssv4029055, nssv4029110, nssv4029059, nssv4029016, nssv4029114, nssv4029002, nssv4029083, nssv4029088, nssv4032814, nssv4029085, nssv4029061, nssv4029108, nssv4029013, nssv4029005, nssv4029117, nssv4029007, nssv4029015, nssv4029089, nssv4029056, nssv4029107, nssv4029106, nssv4029112, nssv4029086, nssv4029014, nssv4029043, nssv4029099, nssv4029017, nssv4029004, nssv4029096, nssv4029019, nssv4029000, nssv4029054, nssv4029103, nssv4029111, nssv4029050, nssv4029069, nssv4029003, nssv4029072, nssv4029038, nssv4029063, nssv4029011, nssv4029075, nssv4032811, nssv4029074, nssv4029010, nssv4029068, nssv4029036, nssv4029037, nssv4029008, nssv4029082, nssv4029105, nssv4029048, nssv4029113, nssv4029039, nssv4029091, nssv4029057, nssv4032816, nssv4029095, nssv4029115, nssv4029029, nssv4032815, nssv4029025, nssv4029090, nssv4029040, nssv4029027, nssv4029078, nssv4029073, nssv4029046, nssv4029066, nssv4029034, nssv4029084, nssv4029093, nssv4029044, nssv4029028, nssv4029077, nssv4029032, nssv4029071, nssv4029097, nssv4029035, nssv4029045, nssv4029067, nssv4029024

Samples

Known Genes

TMPRSS11E, UGT2B17

Method

SNP array

Analysis

1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Lou_et_al_2015

Pubmed ID

26073780

Accession Number(s)

nsv1161106

Frequency

Sample Size	369
Observed Gain	0
Observed Loss	114
Observed Complex	0
Frequency	n/a