A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029331



Internal ID18946508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127777671..127812565hg38UCSC Ensembl
Outerchr4:127775589..127818071hg38UCSC Ensembl
Innerchr4:128698826..128733720hg19UCSC Ensembl
Outerchr4:128696744..128739226hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3842483
hg1942483
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161147
Supporting Variants
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)nssv4029331
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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