A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223911



Internal ID22367527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140478398..140492657hg38UCSC Ensembl
Outerchr7:140178198..140192457hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3814260
hg1914260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278784
SamplesNA19239
Known GenesMKRN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223911
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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