A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161148



Internal ID18956915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127781447..127786011hg38UCSC Ensembl
Outerchr4:127778281..127793358hg38UCSC Ensembl
Innerchr4:128702602..128707166hg19UCSC Ensembl
Outerchr4:128699436..128714513hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3815078
hg1915078
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv199n111
Supporting Variantsnssv4029333
Samples
Known GenesHSPA4L
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)nsv1161148
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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