A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17484882



Internal ID22542792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100822879..100839728hg38UCSC Ensembl
chr2:101439341..101456190hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3816850
hg1916850
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830870
Supporting Variants
Samples
Known GenesNPAS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17484882
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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