A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261713



Internal ID22133626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84244262..84262602hg38UCSC Ensembl
Outerchr1:84709945..84728285hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3818341
hg1918341
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202498
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261713
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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