A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161382



Internal ID19302939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55508289..55549370hg38UCSC Ensembl
Outerchr6:55507620..55552378hg38UCSC Ensembl
Innerchr6:55373087..55414168hg19UCSC Ensembl
Outerchr6:55372418..55417176hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3844759
hg1944759
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4034688
Samples
Known GenesHMGCLL1
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)nsv1161382
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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