A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5580437



Internal ID21528927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73901533..73901585hg38UCSC Ensembl
chr2:74128660..74128712hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113621
SamplesHG02011
Known GenesACTG2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5580437
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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