A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478953



Internal ID256495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:93240190..93240261hg38UCSC Ensembl
chr7:92869503..92869574hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999102
Samples
Known GenesCCDC132
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478953
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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