A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006207



Internal ID71767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135726385..135726412hg38UCSC Ensembl
chr7:135411133..135411160hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404437
Supporting Variants
Samples
Known GenesSLC13A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006207
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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