A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5592462



Internal ID21541044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54169317..54169439hg38UCSC Ensembl
chr18:51695687..51695809hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101308
SamplesHG02011
Known GenesMBD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5592462
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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