A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476656



Internal ID254261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:30689448..30694098hg38UCSC Ensembl
chr10:30978377..30983027hg19UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg384651
hg194651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17031958
Samples
Known GenesSVILP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476656
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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