A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110495



Internal ID21458551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180218598..180218748hg38UCSC Ensembl
chr2:181083325..181083475hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5565406
Supporting Variants
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110495
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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