A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001036



Internal ID68269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74910779..74942389hg38UCSC Ensembl
chr7:74326879..74357366hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3831611
hg1930488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484643
Supporting Variants
Samples
Known GenesPMS2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001036
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000629


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