A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001097



Internal ID68321
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 StatusS
Merged Variantsnsv5484681
Supporting Variants
Samples
Known GenesPMS2P3, POM121C, SPDYE5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001097
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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