A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995544



Internal ID18857685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49690438..49690496hg38UCSC Ensembl
Outerchr13:50264574..50264632hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144677
Supporting Variants
SamplesKWS1
Known GenesEBPL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3995544
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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