A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274305



Internal ID22198258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:74719481..74728535hg38UCSC Ensembl
Outerchr1:75185165..75194219hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383474
hg193474
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230135
Supporting Variants
SamplesHG00732
Known GenesCRYZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274305
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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