A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038082



Internal ID18953535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:5069142..5088591hg38UCSC Ensembl
Outerchr10:5067963..5090996hg38UCSC Ensembl
Innerchr10:5111334..5130783hg19UCSC Ensembl
Outerchr10:5110155..5133188hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3823034
hg1923034
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161924
Supporting Variants
Samples
Known GenesAKR1C3
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)nssv4038082
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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