A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035331



Internal ID19287430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:17957290..18022944hg38UCSC Ensembl
Outerchr7:17952391..18026946hg38UCSC Ensembl
Innerchr7:17996913..18062567hg19UCSC Ensembl
Outerchr7:17992014..18066569hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3874556
hg1974556
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161507
Supporting Variants
Samples
Known GenesPRPS1L1
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)nssv4035331
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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