A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001023



Internal ID68256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74858779..74896389hg38UCSC Ensembl
chr7:74275074..74312506hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3837611
hg1937433
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478136
Supporting Variants
Samples
Known GenesPMS2P5, STAG3L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001023
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000939


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer