A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001030



Internal ID68263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74894389..74928779hg38UCSC Ensembl
chr7:74310504..74343785hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3834391
hg1933282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490478
Supporting Variants
Samples
Known GenesPMS2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005348


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