A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217948



Internal ID22363453
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257188, nssv14257189, nssv14257190, nssv14257186, nssv14257192, nssv14257191, nssv14257187
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCHURC1, CHURC1-FNTB, GPX2, RAB15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217948
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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