A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160441



Internal ID18957796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87766864..87860550hg38UCSC Ensembl
Outerchr16:87761248..87867260hg38UCSC Ensembl
Innerchr16:87800470..87894156hg19UCSC Ensembl
Outerchr16:87794854..87900866hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38106013
hg19106013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039007
Samples
Known GenesKLHDC4, MIR6775, SLC7A5
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)nsv1160441
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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