A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220748



Internal ID22365356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:48491739..48570556hg38UCSC Ensembl
Outerchr7:48531335..48610152hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3878818
hg1978818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277409
SamplesHG00731
Known GenesABCA13
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220748
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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