A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364720



Internal ID22118756
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229075
Supporting Variants
SamplesHG00512
Known GenesRND1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364720
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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