A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481297



Internal ID258784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:119046259..119145943hg38UCSC Ensembl
chr7:118686313..118785997hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3899685
hg1999685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001748
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481297
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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