A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271255



Internal ID22123143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3458139..3504220hg38UCSC Ensembl
Outerchr1:3374703..3420784hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg385067
hg195067
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221197
Supporting Variants
SamplesHG00512
Known GenesARHGEF16, MEGF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271255
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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