A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492061



Internal ID269283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:32882626..32882706hg38UCSC Ensembl
chr7:32922238..32922318hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16996094
Samples
Known GenesKBTBD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492061
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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