A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434603



Internal ID213273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10187200..10248921hg38UCSC Ensembl
chr2:10327326..10389047hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3861722
hg1961722
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909981
Samples
Known GenesC2orf48, MIR4261
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434603
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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