A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264780



Internal ID22120638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50488072..50509833hg38UCSC Ensembl
Outerchr19:50991329..51013090hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381452
hg191452
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236172
Supporting Variants
SamplesHG00512
Known GenesJOSD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264780
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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