A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037952



Internal ID18953405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:129837689..129866907hg38UCSC Ensembl
Outerchr9:129834501..129870679hg38UCSC Ensembl
Innerchr9:132599968..132629186hg19UCSC Ensembl
Outerchr9:132596780..132632958hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3836179
hg1936179
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161909
Supporting Variants
Samples
Known GenesC9orf78, MIR6855, USP20
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)nssv4037952
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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