A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161672



Internal ID19303887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157545672..157558146hg38UCSC Ensembl
Outerchr7:157544783..157559061hg38UCSC Ensembl
Innerchr7:157338366..157350840hg19UCSC Ensembl
Outerchr7:157337477..157351755hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3814279
hg1914279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4036254, nssv4036243, nssv4036253, nssv4036260, nssv4036248, nssv4036256, nssv4036230, nssv4036258, nssv4036231, nssv4036257, nssv4036240, nssv4036235, nssv4036232, nssv4036242, nssv4036246, nssv4036251, nssv4036237, nssv4036239, nssv4036249, nssv4036244, nssv4036245, nssv4036252, nssv4036233, nssv4036238, nssv4036250, nssv4036259, nssv4036247, nssv4036241, nssv4036255, nssv4036236, nssv4036234
Samples
Known GenesPTPRN2
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)nsv1161672
Frequency
Sample Size369
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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