A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236172



Internal ID22373504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50488072..50509833hg38UCSC Ensembl
Outerchr19:50991329..51013090hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381452
hg191452
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264780, nssv14263411, nssv14263412, nssv14263410, nssv14263408, nssv14264782, nssv14263409, nssv14264783, nssv14264781
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesJOSD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236172
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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