A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255212



Internal ID22255168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101703523..101707398hg38UCSC Ensembl
Outerchr12:102097301..102101176hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg383876
hg193876
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220612
Supporting Variants
SamplesNA19238
Known GenesCHPT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255212
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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