A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238849



Internal ID22374269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:4957420..5009066hg38UCSC Ensembl
Outerchr10:4999612..5051258hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38630
hg19630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253501
SamplesHG00732
Known GenesAKR1C1, AKR1C2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238849
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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