A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255252



Internal ID22117516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63234311..63245470hg38UCSC Ensembl
Outerchr1:63699982..63711141hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3811160
hg1911160
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194629
Supporting Variants
SamplesHG00512
Known GenesLINC00466
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255252
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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