A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17488045



Internal ID22545962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75550508..75578880hg38UCSC Ensembl
chr2:75777634..75806006hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3828373
hg1928373
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834027
Supporting Variants
Samples
Known GenesEVA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17488045
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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