A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221867



Internal ID22366111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74232391..74271999hg38UCSC Ensembl
chr12:74626171..74665779hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3839609
hg1939609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1905n152
Supporting Variantsnssv14421732
SamplesHG00514
Known GenesLOC100507377
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221867
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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