A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994449



Internal ID19218860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77371357..77373457hg38UCSC Ensembl
Outerchr14:77837700..77839800hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143755
Supporting Variants
SamplesKWS1
Known GenesTMED8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994449
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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