A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228897



Internal ID22370930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:70135763..70156341hg38UCSC Ensembl
Outerchr9:72750679..72771257hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3820579
hg1920579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281171, nssv14281172
SamplesNA19238, HG00513
Known GenesMAMDC2, MAMDC2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228897
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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