A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16915220



Internal ID10889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86722850..86729154hg38UCSC Ensembl
chr2:86949973..86956277hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg386305
hg196305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140232
Supporting Variants
Samples
Known GenesRMND5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16915220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000175


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