A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368819



Internal ID22209991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57606185..57606185hg38UCSC Ensembl
chr1:58071857..58071857hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561838
Supporting Variants
SamplesHG00732
Known GenesDAB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368819
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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