A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368073



Internal ID22136738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56929081..56929081hg38UCSC Ensembl
chr1:57394754..57394754hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561837
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368073
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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