A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031735



Internal ID19295598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78628966..78633507hg38UCSC Ensembl
Outerchr13:78628317..78635700hg38UCSC Ensembl
Innerchr13:79203101..79207642hg19UCSC Ensembl
Outerchr13:79202452..79209835hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg387384
hg197384
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160140
Supporting Variants
Samples
Known GenesRNF219
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)nssv4031735
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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