A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263353



Internal ID22145804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:17627655..17649025hg38UCSC Ensembl
Outerchr19:17738464..17759834hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3821371
hg1921371
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222632
Supporting Variants
SamplesHG00514
Known GenesUNC13A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263353
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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