A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028365



Internal ID19292228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:185383634..185389229hg38UCSC Ensembl
Outerchr3:185381642..185391816hg38UCSC Ensembl
Innerchr3:185101422..185107017hg19UCSC Ensembl
Outerchr3:185099430..185109604hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3810175
hg1910175
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161010
Supporting Variants
Samples
Known GenesMAP3K13
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)nssv4028365
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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