A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476463



Internal ID254073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147439142..147445822hg38UCSC Ensembl
chr7:147136234..147142914hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg386681
hg196681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003932
Samples
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476463
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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