A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124687



Internal ID19261192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:59219482..59225282hg38UCSC Ensembl
Outerchr14:59686200..59692000hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976742
SamplesKWS2
Known GenesDAAM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124687
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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