A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139959



Internal ID339150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86687950..86701116hg38UCSC Ensembl
chr2:86915073..86928239hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3813167
hg1913167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915216
Samples
Known GenesRNF103-CHMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139959
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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