A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039206



Internal ID19301345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41047461..41065355hg38UCSC Ensembl
Outerchr17:41041508..41066554hg38UCSC Ensembl
Innerchr17:39203713..39221607hg19UCSC Ensembl
Outerchr17:39197760..39222806hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3825047
hg1925047
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160471
Supporting Variants
Samples
Known GenesKRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4
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)nssv4039206
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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