A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14360285



Internal ID22211523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12456858..12457387hg38UCSC Ensembl
chr12:12609792..12610321hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527355
Supporting Variants
SamplesHG00732
Known GenesLOH12CR1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14360285
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer