A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160307



Internal ID19303462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:76598900..76603434hg38UCSC Ensembl
Outerchr15:76586021..76609838hg38UCSC Ensembl
Innerchr15:76891241..76895775hg19UCSC Ensembl
Outerchr15:76878362..76902179hg19UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg3823818
hg1923818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv109n111
Supporting Variantsnssv4032337, nssv4032334, nssv4032363, nssv4032324, nssv4032357, nssv4032354, nssv4032325, nssv4032342, nssv4032344, nssv4032374, nssv4032347, nssv4032352, nssv4032339, nssv4032373, nssv4032361, nssv4032349, nssv4032362, nssv4032335, nssv4032322, nssv4032360, nssv4032330, nssv4032341, nssv4032364, nssv4032359, nssv4032343, nssv4032356, nssv4032331, nssv4032365, nssv4032336, nssv4032358, nssv4032367, nssv4032368, nssv4032372, nssv4032326, nssv4032332, nssv4032370, nssv4032329, nssv4032350, nssv4032351, nssv4032328, nssv4032345, nssv4032327, nssv4032333, nssv4032346, nssv4032366, nssv4032353, nssv4032371, nssv4032369, nssv4032340, nssv4032338, nssv4032348, nssv4032355, nssv4032323
Samples
Known GenesSCAPER
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)nsv1160307
Frequency
Sample Size369
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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