A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256117



Internal ID22200393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56070457..56085022hg38UCSC Ensembl
Outerchr12:56464241..56478806hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231554
Supporting Variants
SamplesHG00732
Known GenesERBB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256117
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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