A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160486



Internal ID19304384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41360776..41366243hg38UCSC Ensembl
Outerchr17:41359305..41370057hg38UCSC Ensembl
Innerchr17:39517028..39522495hg19UCSC Ensembl
Outerchr17:39515557..39526309hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3810753
hg1910753
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039314
Samples
Known GenesKRT33B
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)nsv1160486
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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