A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004036



Internal ID70323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107567980..107665961hg38UCSC Ensembl
chr7:107208425..107306406hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg3897982
hg1997982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486581
Supporting Variants
Samples
Known GenesBCAP29, DUS4L, SLC26A4, SLC26A4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004036
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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