A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480079



Internal ID257590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147510010..147511018hg38UCSC Ensembl
chr7:147207102..147208110hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004600
Samples
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480079
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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