A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161510



Internal ID19303940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29628162..29741337hg38UCSC Ensembl
Outerchr7:29624952..29744097hg38UCSC Ensembl
Innerchr7:29667778..29780953hg19UCSC Ensembl
Outerchr7:29664568..29783713hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38119146
hg19119146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv235n111
Supporting Variantsnssv4035369
Samples
Known GenesDPY19L2P3, LOC646762, MIR550A3, ZNRF2P2
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)nsv1161510
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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