A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139239



Internal ID338423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25582308..25582397hg38UCSC Ensembl
chr2:25805177..25805266hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911004
Samples
Known GenesDTNB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139239
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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