A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160280



Internal ID18955995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34408482..34538187hg38UCSC Ensembl
Outerchr15:34403291..34538743hg38UCSC Ensembl
Innerchr15:34700683..34830388hg19UCSC Ensembl
Outerchr15:34695492..34830944hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38135453
hg19135453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4032231, nssv4032232, nssv4032233, nssv4032234, nssv4032236, nssv4032235, nssv4032230
Samples
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)nsv1160280
Frequency
Sample Size369
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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