A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035703



Internal ID19287802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:121521933..121546239hg38UCSC Ensembl
Outerchr7:121521500..121547647hg38UCSC Ensembl
Innerchr7:121161987..121186293hg19UCSC Ensembl
Outerchr7:121161554..121187701hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3826148
hg1926148
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161605
Supporting Variants
Samples
Known Genes
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)nssv4035703
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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