A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001083



Internal ID68308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75358000..75364779hg38UCSC Ensembl
chr7:74987254..74994048hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386780
hg196795
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141897
Supporting Variants
Samples
Known GenesPMS2P5, STAG3L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001083
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012878


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