A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5867589



Internal ID22642524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44460937..44603305hg38UCSC Ensembl
chr2:44688076..44830444hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38142369
hg19142369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407702
Samples
Known GenesCAMKMT, MIR548AD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5867589
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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