A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269140



Internal ID22321452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157535258..157549534hg38UCSC Ensembl
Outerchr1:157505048..157519324hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg386361
hg196361
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229839
Supporting Variants
SamplesNA19240
Known GenesFCRL5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269140
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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