A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4036098



Internal ID19288197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144249785..144369854hg38UCSC Ensembl
Outerchr7:144241220..144377836hg38UCSC Ensembl
Innerchr7:143946878..144066947hg19UCSC Ensembl
Outerchr7:143938313..144074929hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38136617
hg19136617
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161665
Supporting Variants
Samples
Known GenesARHGEF34P, ARHGEF5, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
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)nssv4036098
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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