A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275802



Internal ID22198522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35688202..35723289hg38UCSC Ensembl
Outerchr5:35688304..35723391hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219757
Supporting Variants
SamplesHG00732
Known GenesSPEF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275802
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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