A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257191



Internal ID22234870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64878273..64951722hg38UCSC Ensembl
Outerchr14:65344991..65418440hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3873450
hg1973450
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217948
Supporting Variants
SamplesHG00733
Known GenesCHURC1, CHURC1-FNTB, GPX2, RAB15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257191
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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