A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228169



Internal ID22370438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131709457..131712659hg38UCSC Ensembl
Outerchr7:131394216..131397418hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg383203
hg193203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278781
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228169
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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