A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161370



Internal ID18957275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31604556..31689977hg38UCSC Ensembl
Outerchr6:31600692..31714252hg38UCSC Ensembl
Innerchr6:31572333..31657754hg19UCSC Ensembl
Outerchr6:31568469..31682029hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38113561
hg19113561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4034491
Samples
Known GenesABHD16A, AIF1, APOM, BAG6, C6orf47, CSNK2B, GPANK1, LY6G5B, LY6G5C, LY6G6E, LY6G6F, MIR4646, MIR6832, PRRC2A, SNORA38
MethodSNP array
Analysis1) 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.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1161370
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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