A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256183



Internal ID22200419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:5903047..5942440hg38UCSC Ensembl
Outerchr12:6012213..6051606hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381739
hg191739
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232570
Supporting Variants
SamplesHG00732
Known GenesANO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256183
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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