A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17113979



Internal ID21423311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31283639..31283692hg38UCSC Ensembl
chr2:31506505..31506558hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5582634
Supporting Variants
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17113979
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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