Variant Details

Variant: nsv1161631

Internal ID

19303997

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:143521875..143870966	hg38	UCSC Ensembl
Outer	chr7:143521765..143875073	hg38	UCSC Ensembl
Inner	chr7:143218968..143568059	hg19	UCSC Ensembl
Outer	chr7:143218858..143572166	hg19	UCSC Ensembl

Cytoband

7q35

Allele length

Assembly	Allele length
hg38	353309
hg19	353309

Variant Type

CNV duplication

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4035927, nssv4035920, nssv4035934, nssv4035912, nssv4035952, nssv4035886, nssv4035915, nssv4035879, nssv4035913, nssv4035900, nssv4035893, nssv4035933, nssv4035870, nssv4035902, nssv4035939, nssv4035874, nssv4035910, nssv4035930, nssv4035885, nssv4035871, nssv4035896, nssv4035942, nssv4035897, nssv4035908, nssv4035868, nssv4035928, nssv4035889, nssv4035923, nssv4035944, nssv4035899, nssv4035911, nssv4035883, nssv4035864, nssv4035865, nssv4035946, nssv4035906, nssv4035904, nssv4035931, nssv4035937, nssv4035909, nssv4035873, nssv4035948, nssv4035941, nssv4035872, nssv4035918, nssv4035924, nssv4035917, nssv4035914, nssv4035940, nssv4035867, nssv4035901, nssv4035949, nssv4035951, nssv4035881, nssv4035887, nssv4035907, nssv4035890, nssv4035943, nssv4035894, nssv4035936, nssv4035921, nssv4035884, nssv4035905, nssv4035891, nssv4035935, nssv4035869, nssv4035878, nssv4035938, nssv4035926, nssv4035925, nssv4035945, nssv4035903, nssv4035882, nssv4035875, nssv4035877, nssv4035950, nssv4035895, nssv4035916, nssv4035888, nssv4035929, nssv4035876, nssv4035932, nssv4035898, nssv4035866, nssv4035880, nssv4035922, nssv4035919, nssv4035947, nssv4035892

Samples

Known Genes

CTAGE15, CTAGE6, EPHA1-AS1, FAM115A, FAM115C, LOC154761

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)

nsv1161631

Frequency

Sample Size	369
Observed Gain	89
Observed Loss	0
Observed Complex	0
Frequency	n/a