A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026529



Internal ID19290392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38646657..38649458hg38UCSC Ensembl
Outerchr2:38635081..38651175hg38UCSC Ensembl
Innerchr2:38873799..38876600hg19UCSC Ensembl
Outerchr2:38862223..38878317hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3816095
hg1916095
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160742
Supporting Variants
Samples
Known Genes
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)nssv4026529
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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