A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255218



Internal ID22144596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129797532..129868059hg38UCSC Ensembl
Outerchr12:130282077..130352604hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3870528
hg1970528
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218524
Supporting Variants
SamplesHG00514
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255218
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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