A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590335



Internal ID21538904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122894032..122894153hg38UCSC Ensembl
chr12:123378579..123378700hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077670
SamplesHG03732
Known GenesVPS37B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590335
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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