A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255251



Internal ID22272067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:25476134..25487735hg38UCSC Ensembl
Outerchr12:25629068..25640669hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3811602
hg1911602
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220964
Supporting Variants
SamplesNA19239
Known GenesIFLTD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255251
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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