A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5610976



Internal ID21559281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86544987..86544987hg38UCSC Ensembl
chr2:86772110..86772110hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114919
SamplesHG00864
Known GenesCHMP3, RNF103-CHMP3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5610976
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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