A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161084



Internal ID19302529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:53204794..53214075hg38UCSC Ensembl
Outerchr4:53200838..53220572hg38UCSC Ensembl
Innerchr4:54070961..54080242hg19UCSC Ensembl
Outerchr4:54067005..54086739hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3819735
hg1919735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028895
Samples
Known GenesSCFD2
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)nsv1161084
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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