A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140323



Internal ID339516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26984901..26984951hg38UCSC Ensembl
chr2:27207769..27207819hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910632
Samples
Known GenesMAPRE3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140323
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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