A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215314



Internal ID22361689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70190654..70223110hg38UCSC Ensembl
chr12:70584434..70616890hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3832457
hg1932457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1893n152
Supporting Variantsnssv14449374
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215314
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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