A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918712



Internal ID22693934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32831599..32834600hg38UCSC Ensembl
chr12:32984533..32987534hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350192
Samples
Known GenesPKP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918712
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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