A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004064



Internal ID70343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107901921..107902058hg38UCSC Ensembl
chr7:107542366..107542503hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484136
Supporting Variants
Samples
Known GenesDLD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004064
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003434


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