A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257281



Internal ID22324472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:95403652..95426647hg38UCSC Ensembl
Outerchr14:95869989..95892984hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231890
Supporting Variants
SamplesNA19240
Known GenesLINC00341, SYNE3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257281
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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