A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006205



Internal ID71766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135709652..135712784hg38UCSC Ensembl
chr7:135394400..135397532hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg383133
hg193133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492862
Supporting Variants
Samples
Known GenesSLC13A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006205
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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