A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961041



Internal ID22736001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17753324..17753324hg38UCSC Ensembl
chr2:17934591..17934591hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392030
Samples
Known GenesSMC6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961041
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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