A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212441



Internal ID22359690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:98509941..98597770hg38UCSC Ensembl
Outerchr9:101272223..101360052hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3887830
hg1987830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281935, nssv14281937, nssv14281936
SamplesNA19239, NA19240, HG00514
Known GenesGABBR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212441
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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