A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868983



Internal ID22643918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26975632..26975858hg38UCSC Ensembl
chr2:27198500..27198726hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400849
Samples
Known GenesMAPRE3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868983
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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