A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035596



Internal ID18941009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:85079246..85153716hg38UCSC Ensembl
Outerchr7:85075393..85154704hg38UCSC Ensembl
Innerchr7:84708562..84783032hg19UCSC Ensembl
Outerchr7:84704709..84784020hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3879312
hg1979312
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161579
Supporting Variants
Samples
Known GenesSEMA3D
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)nssv4035596
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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