A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039208



Internal ID18954661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41231308..41237517hg38UCSC Ensembl
Outerchr17:41224178..41239604hg38UCSC Ensembl
Innerchr17:39387560..39393769hg19UCSC Ensembl
Outerchr17:39380430..39395856hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3815427
hg1915427
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160473
Supporting Variants
Samples
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-8
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)nssv4039208
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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