A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474856



Internal ID252507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146476049..146690885hg38UCSC Ensembl
chr7:146173141..146387977hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38214837
hg19214837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17006452
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474856
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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