A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406078



Internal ID22463948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55527047..55528169hg38UCSC Ensembl
chr2:55754183..55755305hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381123
hg191123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881752
Supporting Variants
Samples
Known GenesCCDC104
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406078
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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