A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222497



Internal ID22366557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:100041449..100117856hg38UCSC Ensembl
Outerchr9:102803731..102880138hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3876408
hg1976408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282907
SamplesHG00731
Known GenesERP44, INVS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222497
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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