A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160292



Internal ID18956471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45355782..46174712hg38UCSC Ensembl
Outerchr15:45351161..46175480hg38UCSC Ensembl
Innerchr15:45647980..46466910hg19UCSC Ensembl
Outerchr15:45643359..46467678hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38824320
hg19824320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4032280
Samples
Known GenesBLOC1S6, C15orf48, GATM, GATM-AS1, HMGN2P46, MIR147B, SLC30A4, SPATA5L1, SQRDL
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)nsv1160292
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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