A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481334



Internal ID22539238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187365987..187375299hg38UCSC Ensembl
chr2:188230714..188240026hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg389313
hg199313
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832311
Supporting Variants
Samples
Known GenesCALCRL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481334
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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