A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269377



Internal ID22274035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112630576..112642448hg38UCSC Ensembl
Outerchr1:113173198..113185070hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211333
Supporting Variants
SamplesNA19239
Known GenesCAPZA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269377
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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