A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263315



Internal ID22120174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:197852..208249hg38UCSC Ensembl
Outerchr19:197852..208249hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3810398
hg1910398
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215507
Supporting Variants
SamplesHG00512
Known GenesLINC01002
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263315
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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