A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364782



Internal ID22145184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50011329..50011980hg38UCSC Ensembl
chr12:50405112..50405763hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38652
hg19652
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225095
Supporting Variants
SamplesHG00514
Known GenesRACGAP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364782
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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