A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028899



Internal ID18946076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56678337..56835855hg38UCSC Ensembl
Outerchr4:56678187..56838222hg38UCSC Ensembl
Innerchr4:57544503..57702021hg19UCSC Ensembl
Outerchr4:57544353..57704388hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38160036
hg19160036
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161088
Supporting Variants
Samples
Known GenesHOPX, SPINK2
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)nssv4028899
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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