A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238637



Internal ID22374213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63087507..63117261hg38UCSC Ensembl
Outerchr20:61718859..61748613hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381836
hg191836
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266966, nssv14266965, nssv14266969, nssv14266971, nssv14266970, nssv14266972, nssv14266968, nssv14266967
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHAR1A, HAR1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238637
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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