A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256335



Internal ID22196521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30277537..30366172hg38UCSC Ensembl
Outerchr12:30430470..30519105hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3888636
hg1988636
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219565
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256335
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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