A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872142



Internal ID22647081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12189483..12193988hg38UCSC Ensembl
chr2:12329609..12334114hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg384506
hg194506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394907
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872142
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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