A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134384



Internal ID18939307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:68183984..68184050hg38UCSC Ensembl
Outerchr14:68650701..68650767hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971880
SamplesKWS2
Known GenesRAD51B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134384
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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