A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240406



Internal ID22374694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:25385442..25450293hg38UCSC Ensembl
Outerchr10:25674371..25739222hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg385862
hg195862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283682, nssv14283684, nssv14283683, nssv14283681, nssv14283680
SamplesHG00512, NA19238, NA19239, HG00732, HG00514
Known GenesGPR158
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240406
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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