A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161251



Internal ID18957029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60949318..60986148hg38UCSC Ensembl
Outerchr5:60943616..60988813hg38UCSC Ensembl
Innerchr5:60245145..60281975hg19UCSC Ensembl
Outerchr5:60239443..60284640hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3845198
hg1945198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033424
Samples
Known GenesERCC8, NDUFAF2
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)nsv1161251
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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