A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355223



Internal ID22580892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26800898..26800979hg38UCSC Ensembl
chr12:26953831..26953912hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5920240
Supporting Variants
Samples
Known GenesITPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355223
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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