A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247600



Internal ID22376764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11603053..11625518hg38UCSC Ensembl
Outerchr19:11713868..11736333hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38832
hg19832
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264018, nssv14264019, nssv14264020
SamplesHG00512, NA19239, HG00732
Known GenesZNF627
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247600
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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