A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002036



Internal ID18846777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51319745..51323546hg38UCSC Ensembl
Outerchr19:51822999..51826800hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg383802
hg193802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151102
Supporting Variants
SamplesKWB1
Known GenesIGLON5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002036
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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