A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5959422



Internal ID22734454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86569310..86569310hg38UCSC Ensembl
chr2:86796433..86796433hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392293
Samples
Known GenesRNF103-CHMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5959422
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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