A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032211



Internal ID18949388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30338762..30440076hg38UCSC Ensembl
Outerchr15:30334225..30442554hg38UCSC Ensembl
Innerchr15:30630965..30732279hg19UCSC Ensembl
Outerchr15:30626428..30734757hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38108330
hg19108330
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160269
Supporting Variants
Samples
Known GenesCHRFAM7A, LOC101059918
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)nssv4032211
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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