A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407115



Internal ID22464985
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 StatusS
Merged Variantsnsv5888460
Supporting Variants
Samples
Known GenesIQCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407115
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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