A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17101060



Internal ID21466533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23218588..23218659hg38UCSC Ensembl
chr18:20798552..20798623hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5587756
Supporting Variants
SamplesHG03065
Known GenesCABLES1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17101060
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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