A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996926



Internal ID19193944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:99656799..99656884hg38UCSC Ensembl
Outerchr14:100123136..100123221hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152321
Supporting Variants
SamplesKWB1
Known GenesHHIPL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996926
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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