A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030059



Internal ID18947236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16868660..16935752hg38UCSC Ensembl
Outerchr1:16864367..16949746hg38UCSC Ensembl
Innerchr1:17195155..17262247hg19UCSC Ensembl
Outerchr1:17190862..17276241hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3885380
hg1985380
Variant TypeCNV duplication
Copy Number5
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160181
Supporting Variants
Samples
Known GenesCROCC
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)nssv4030059
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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