A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258414



Internal ID22132444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:25682935..25701642hg38UCSC Ensembl
Outerchr15:25928082..25946789hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg3818708
hg1918708
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214194
Supporting Variants
SamplesHG00513
Known GenesATP10A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258414
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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