A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404521



Internal ID183872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33155705..33155705hg38UCSC Ensembl
chr7:33195317..33195317hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994655
Samples
Known GenesBBS9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404521
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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