A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262470



Internal ID22144478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13895102..13919025hg38UCSC Ensembl
Outerchr19:14005915..14029838hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3823924
hg1923924
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224214
Supporting Variants
SamplesHG00514
Known GenesC19orf57, CC2D1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262470
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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