A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035330



Internal ID18940743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:17559645..17892434hg38UCSC Ensembl
Outerchr7:17557790..17898868hg38UCSC Ensembl
Innerchr7:17599269..17932057hg19UCSC Ensembl
Outerchr7:17597414..17938491hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38341079
hg19341078
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161506
Supporting Variants
Samples
Known GenesSNX13
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)nssv4035330
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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