A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039825



Internal ID18955278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40267017..40283285hg38UCSC Ensembl
Outerchr19:40257944..40283871hg38UCSC Ensembl
Innerchr19:40772924..40789192hg19UCSC Ensembl
Outerchr19:40763851..40789778hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3825928
hg1925928
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160618
Supporting Variants
Samples
Known GenesAKT2, MIR641
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)nssv4039825
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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