A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17484141



Internal ID22542049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32556750..32558991hg38UCSC Ensembl
chr2:32781817..32784058hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382242
hg192242
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832617
Supporting Variants
Samples
Known GenesBIRC6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17484141
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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