A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112740



Internal ID21460697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2485305..2485387hg38UCSC Ensembl
chr2:2489077..2489159hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5564631
Supporting Variants
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112740
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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