A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254815



Internal ID22274871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129820812..129893108hg38UCSC Ensembl
Outerchr12:130305357..130377653hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3872297
hg1972297
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221888
Supporting Variants
SamplesNA19239
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254815
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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