A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990028



Internal ID21899371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75593864..75690055hg38UCSC Ensembl
chr2:75820990..75917181hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3896192
hg1996192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17535704
Samples
Known GenesGCFC2, MRPL19
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990028
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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