A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224635



Internal ID22368005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:121601204..121620697hg38UCSC Ensembl
Outerchr9:124363483..124382976hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3819494
hg1919494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282820
SamplesHG00512
Known GenesDAB2IP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224635
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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