A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245496



Internal ID22376161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:34655578..34668498hg38UCSC Ensembl
Outerchr10:34944506..34957426hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg382022
hg192022
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283571
SamplesNA19238
Known GenesPARD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245496
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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