A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484681



Internal ID262092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75483711..75525214hg38UCSC Ensembl
chr7:75112988..75154543hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3841504
hg1941556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv473n206
Supporting Variantsnssv17001097
Samples
Known GenesPMS2P3, POM121C, SPDYE5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484681
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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