A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257600



Internal ID22118336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:22943634..22954410hg38UCSC Ensembl
Outerchr14:23412843..23423619hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382646
hg192646
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232030
Supporting Variants
SamplesHG00512
Known GenesHAUS4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257600
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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