A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113648



Internal ID18903496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49783307..49783371hg38UCSC Ensembl
Outerchr14:50250025..50250089hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968965
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113648
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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