A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259044



Internal ID22145169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:61753017..61764403hg38UCSC Ensembl
Outerchr14:62219735..62231121hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg381008
hg191008
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240399
Supporting Variants
SamplesHG00514
Known GenesSNAPC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259044
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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