A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138286



Internal ID19273762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:31393750..31393813hg38UCSC Ensembl
Outerchr14:31862956..31863019hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990835
SamplesKWS2
Known GenesHEATR5A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138286
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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