A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5652868



Internal ID21601173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54930653..54930653hg38UCSC Ensembl
chr18:52597884..52597884hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101827
SamplesHG03125
Known GenesCCDC68
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5652868
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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