A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038575



Internal ID19300714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:19311269..19349686hg38UCSC Ensembl
Outerchr16:19310643..19359765hg38UCSC Ensembl
Innerchr16:19322591..19361008hg19UCSC Ensembl
Outerchr16:19321965..19371087hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3849123
hg1949123
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160368
Supporting Variants
Samples
Known GenesCLEC19A
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)nssv4038575
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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