A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140232



Internal ID339425
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 StatusM
Merged Variants
Supporting Variantsnssv16915220
Samples
Known GenesRMND5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140232
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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