A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467813



Internal ID245622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:3336994..3347450hg38UCSC Ensembl
chr7:3376626..3387082hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3810457
hg1910457
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992408
Samples
Known GenesSDK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467813
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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