A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263381



Internal ID22211568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12287740..12298212hg38UCSC Ensembl
Outerchr19:12398555..12409027hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3810473
hg1910473
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228936
Supporting Variants
SamplesHG00732
Known GenesZNF44
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263381
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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