A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037525



Internal ID19289624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:33014580..33027218hg38UCSC Ensembl
Outerchr9:33009415..33030887hg38UCSC Ensembl
Innerchr9:33014578..33027216hg19UCSC Ensembl
Outerchr9:33009413..33030885hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg3821473
hg1921473
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161856
Supporting Variants
Samples
Known GenesDNAJA1
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)nssv4037525
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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