A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408527



Internal ID187852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39710094..39710094hg38UCSC Ensembl
chr7:39749693..39749693hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995409
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408527
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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