A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598846



Internal ID21547476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94177133..94177200hg38UCSC Ensembl
chr12:94570909..94570976hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17081575
SamplesHG00731
Known GenesPLXNC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598846
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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