A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221764



Internal ID22366037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57206471..57230693hg38UCSC Ensembl
Outerchr19:57717839..57742061hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3824223
hg1924223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263377
SamplesHG00731
Known GenesZNF264
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221764
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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