A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038160



Internal ID18953613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51075972..51080500hg38UCSC Ensembl
Outerchr10:51071264..51084349hg38UCSC Ensembl
Innerchr10:52835732..52840260hg19UCSC Ensembl
Outerchr10:52831024..52844109hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3813086
hg1913086
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161952
Supporting Variants
Samples
Known GenesPRKG1
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)nssv4038160
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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