A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037829



Internal ID19299968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:93288074..93303296hg38UCSC Ensembl
Outerchr9:93282858..93311147hg38UCSC Ensembl
Innerchr9:96050356..96065578hg19UCSC Ensembl
Outerchr9:96045140..96073429hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3828290
hg1928290
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161885
Supporting Variants
Samples
Known GenesWNK2
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)nssv4037829
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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