A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258748



Internal ID22145128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:35236418..35250598hg38UCSC Ensembl
Outerchr15:35528619..35542799hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3814181
hg1914181
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213470
Supporting Variants
SamplesHG00514
Known GenesANP32AP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258748
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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