A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229075



Internal ID22371039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48852432..48858161hg38UCSC Ensembl
chr12:49246215..49251944hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385730
hg195730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364720, nssv14364722, nssv14364721
SamplesHG00512, HG00513, HG00514
Known GenesRND1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229075
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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