A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124711



Internal ID19261049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:49779803..49784903hg38UCSC Ensembl
Outerchr15:50072000..50077100hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976766
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124711
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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