A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236671



Internal ID22373658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:103240416..103296235hg38UCSC Ensembl
Outerchr10:105000173..105055992hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg381220
hg191220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253441, nssv14253439, nssv14253440
SamplesHG00731, HG00513, HG00514
Known GenesINA, LOC729020
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236671
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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