A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139607



Internal ID19252302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101267263..101271963hg38UCSC Ensembl
Outerchr14:101733600..101738300hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg384701
hg194701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977193
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139607
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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