A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139282



Internal ID338467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222513676..222513735hg38UCSC Ensembl
chr2:223378395..223378454hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923938
Samples
Known GenesSGPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139282
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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