A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237025



Internal ID22373766
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267336, nssv14267330, nssv14267334, nssv14267827, nssv14267331, nssv14267333, nssv14267826, nssv14267332, nssv14267335
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesAPCDD1L, APCDD1L-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237025
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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