A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5853300



Internal ID22628235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32831561..32834642hg38UCSC Ensembl
chr12:32984495..32987576hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383082
hg193082
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17464428
Samples
Known GenesPKP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5853300
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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