A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274271



Internal ID22216155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:57346495..57372675hg38UCSC Ensembl
Outerchr1:57812167..57838347hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg384297
hg194297
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213062
Supporting Variants
SamplesHG00733
Known GenesDAB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274271
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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