A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231954



Internal ID22372373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:23547020..23564080hg38UCSC Ensembl
Outerchr10:23835949..23853009hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg383368
hg193368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253479, nssv14253480
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231954
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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