A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875437



Internal ID22650394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12994550..13001245hg38UCSC Ensembl
chr2:13134675..13141370hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg386696
hg196696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404059
Samples
Known GenesLOC100506474
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875437
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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