A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250063



Internal ID22344782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:104828892..104852634hg38UCSC Ensembl
Outerchr9:107591173..107614915hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg382412
hg192412
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283617, nssv14283614, nssv14283615, nssv14283616
SamplesNA19238, HG00732, HG00513, HG00514
Known GenesABCA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250063
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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