A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040172



Internal ID18955625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54756764..54837236hg38UCSC Ensembl
Outerchr19:54741104..54849083hg38UCSC Ensembl
Innerchr19:55268216..55348691hg19UCSC Ensembl
Outerchr19:55252550..55360538hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38107980
hg19107989
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160665
Supporting Variants
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
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)nssv4040172
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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