A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263496



Internal ID22120228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:82238924..82283800hg38UCSC Ensembl
Outerchr1:82704608..82749484hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382934
hg192934
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213704
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263496
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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