A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997648



Internal ID19191851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42177247..42183248hg38UCSC Ensembl
Outerchr19:42681399..42687400hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148860
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997648
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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