A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001531



Internal ID68623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123889635..123889731hg38UCSC Ensembl
chr7:123529689..123529785hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476190
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001531
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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