A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478136



Internal ID255701
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 StatusM
Merged Variants
Supporting Variantsnssv17001023
Samples
Known GenesPMS2P5, STAG3L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478136
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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