A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446575



Internal ID224898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247297945..247373904hg38UCSC Ensembl
chr1:247461247..247537206hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3875960
hg1975960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899602
Samples
Known GenesZNF496
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446575
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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