A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191258



Internal ID22341987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4492375..4506377hg38UCSC Ensembl
Outerchr3:4534059..4548061hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3814003
hg1914003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271479
SamplesHG00731
Known GenesITPR1, ITPR1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191258
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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