A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031905



Internal ID19295768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056983..20996207hg38UCSC Ensembl
Outerchr15:20041902..21005443hg38UCSC Ensembl
Innerchr15:20262236..21201536hg19UCSC Ensembl
Outerchr15:20247155..21210772hg19UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38963542
hg19963618
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160218
Supporting Variants
Samples
Known GenesCHEK2P2, CT60, GOLGA6L6, GOLGA8CP, HERC2P3, NBEAP1, NF1P2, POTEB, POTEB2
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)nssv4031905
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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