A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028002



Internal ID18945179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:116860709..116929843hg38UCSC Ensembl
Outerchr3:116855358..116930532hg38UCSC Ensembl
Innerchr3:116579556..116648690hg19UCSC Ensembl
Outerchr3:116574205..116649379hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3875175
hg1975175
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160972
Supporting Variants
Samples
Known Genes
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)nssv4028002
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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