A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267332



Internal ID22146386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58513802..58527248hg38UCSC Ensembl
Outerchr20:57088858..57102304hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381239
hg191239
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237025
Supporting Variants
SamplesHG00514
Known GenesAPCDD1L, APCDD1L-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267332
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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