A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006204



Internal ID71765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135708953..135713631hg38UCSC Ensembl
chr7:135393701..135398379hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg384679
hg194679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485827
Supporting Variants
Samples
Known GenesSLC13A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006204
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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