A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888460



Internal ID22663466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236289359..236335720hg38UCSC Ensembl
chr2:237198002..237244363hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3846362
hg1946362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407115
Samples
Known GenesIQCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888460
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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