A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994452



Internal ID19211836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101456663..101457863hg38UCSC Ensembl
Outerchr14:101923000..101924200hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143758
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994452
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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