A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365486



Internal ID22119754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101362525..101363179hg38UCSC Ensembl
chr12:101756303..101756957hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528542
Supporting Variants
SamplesHG00512
Known GenesUTP20
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365486
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