A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362531



Internal ID22216957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4271201..4275350hg38UCSC Ensembl
chr12:4380367..4384516hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg384150
hg194150
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218257
Supporting Variants
SamplesHG00733
Known GenesCCND2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362531
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