A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263377



Internal ID22197389
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221764
Supporting Variants
SamplesHG00731
Known GenesZNF264
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263377
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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