A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237950



Internal ID22374017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68910811..68934974hg38UCSC Ensembl
Outerchr10:70670567..70694730hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252901
SamplesHG00732
Known GenesDDX50
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237950
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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