A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304572



Internal ID22306480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8559423..8560126hg38UCSC Ensembl
chr3:8601109..8601812hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203567
Supporting Variants
SamplesNA19240
Known GenesLMCD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304572
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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