A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000477



Internal ID67896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98199761..98216861hg38UCSC Ensembl
chr7:97829073..97846173hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3817101
hg1917101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141861
Supporting Variants
Samples
Known GenesBHLHA15, LMTK2, TECPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000477
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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