A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139191



Internal ID338375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202931719..202931796hg38UCSC Ensembl
chr2:203796442..203796519hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924343
Samples
Known GenesCARF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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