A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365447



Internal ID22256813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51132298..51132372hg38UCSC Ensembl
chr12:51526081..51526155hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210738
Supporting Variants
SamplesNA19238
Known GenesTFCP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365447
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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