A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488556



Internal ID265864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148595497..148595596hg38UCSC Ensembl
chr7:148292589..148292688hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17005635
Samples
Known GenesC7orf33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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