A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256162



Internal ID22220948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2511490..2551916hg38UCSC Ensembl
Outerchr12:2620656..2661082hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382542
hg192542
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248132
Supporting Variants
SamplesHG00733
Known GenesCACNA1C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256162
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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