A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481623



Internal ID259097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39840924..39848637hg38UCSC Ensembl
chr7:39880523..39888236hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg387714
hg197714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995417
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481623
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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