A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996820



Internal ID17289772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:184805547..184815346hg38UCSC Ensembl
Outerchr4:185726701..185736500hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg389800
hg199800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949860
Supporting Variants
SamplesBILGI_BIOE
Known GenesACSL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996820
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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