A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160619



Internal ID18957780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40707755..40761224hg38UCSC Ensembl
Outerchr19:40706352..40763204hg38UCSC Ensembl
Innerchr19:41213660..41267129hg19UCSC Ensembl
Outerchr19:41212257..41269109hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3856853
hg1956853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039826
Samples
Known GenesADCK4, C19orf54, ITPKC, SNRPA
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)nsv1160619
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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