A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488208



Internal ID265528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54001014..54001276hg38UCSC Ensembl
chr7:54068707..54068969hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16996690
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488208
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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