A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4041060



Internal ID18953196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111285360..111297256hg38UCSC Ensembl
Outerchr1:111285127..111301836hg38UCSC Ensembl
Innerchr1:111827982..111839878hg19UCSC Ensembl
Outerchr1:111827749..111844458hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3816710
hg1916710
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161401
Supporting Variants
Samples
Known GenesCHIA, CHIAP2
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)nssv4041060
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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