A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393014



Internal ID22450884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44460872..44597987hg38UCSC Ensembl
chr2:44688011..44825126hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38137116
hg19137116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880722
Supporting Variants
Samples
Known GenesCAMKMT, MIR548AD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393014
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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