A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476611



Internal ID254217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:119587809..119596005hg38UCSC Ensembl
chr7:119227863..119236059hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg388197
hg198197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001474
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476611
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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