A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257801



Internal ID22312934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:74461383..74487182hg38UCSC Ensembl
Outerchr14:74928086..74953885hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381118
hg191118
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234117
Supporting Variants
SamplesNA19240
Known GenesMIR4709, NPC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257801
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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