A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191556



Internal ID22342246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236753146..236786390hg38UCSC Ensembl
Outerchr1:236916446..236949690hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3833245
hg1933245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254956, nssv14254958, nssv14254957
SamplesHG00732, NA19240, HG00514
Known GenesACTN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191556
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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