A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479646



Internal ID257164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148386565..148386625hg38UCSC Ensembl
chr7:148083657..148083717hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17005606
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479646
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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