A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230305



Internal ID22371867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48521328..48521403hg38UCSC Ensembl
chr12:48915111..48915186hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364715, nssv14364716
SamplesHG00731, HG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230305
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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