A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214775



Internal ID22361323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:31107561..31117264hg38UCSC Ensembl
Outerchr2:31330427..31340130hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38668
hg19668
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265649
SamplesHG00512
Known GenesGALNT14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214775
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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