A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5663556



Internal ID21611861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28496601..28496601hg38UCSC Ensembl
chr17:26823619..26823619hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17097534
SamplesHG00731
Known GenesSLC13A2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5663556
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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