A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997585



Internal ID19188554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:39800835..39803136hg38UCSC Ensembl
Outerchr18:37380799..37383100hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148799
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997585
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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