A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028372



Internal ID18945549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189645889..189653225hg38UCSC Ensembl
Outerchr3:189642965..189654562hg38UCSC Ensembl
Innerchr3:189363678..189371014hg19UCSC Ensembl
Outerchr3:189360754..189372351hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3811598
hg1911598
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161015
Supporting Variants
Samples
Known GenesTP63
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)nssv4028372
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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