A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18235977



Internal ID20803017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135688517..135689143hg38UCSC Ensembl
chr7:135373265..135373891hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6423438
Supporting Variants
Samples
Known GenesSLC13A4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18235977
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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