A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4033140



Internal ID18950317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36915061..37039767hg38UCSC Ensembl
Outerchr5:36914077..37043830hg38UCSC Ensembl
Innerchr5:36915163..37039869hg19UCSC Ensembl
Outerchr5:36914179..37043932hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38129754
hg19129754
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161231
Supporting Variants
Samples
Known GenesNIPBL
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)nssv4033140
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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