A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116993



Internal ID19281578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:59054391..59054462hg38UCSC Ensembl
Outerchr3:59040117..59040188hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956597
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116993
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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