A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271760



Internal ID22314103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:163237261..163314344hg38UCSC Ensembl
Outerchr3:162955049..163032132hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3877084
hg1977084
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197229
Supporting Variants
SamplesNA19240
Known GenesCT64
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271760
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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