A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994453



Internal ID19205089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101560463..101561363hg38UCSC Ensembl
Outerchr14:102026800..102027700hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143759
Supporting Variants
SamplesKWS1
Known GenesDIO3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994453
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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