A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255349



Internal ID22117560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29686234..29697706hg38UCSC Ensembl
Outerchr12:29839167..29850639hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3811473
hg1911473
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213637
Supporting Variants
SamplesHG00512
Known GenesTMTC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255349
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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