A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130598



Internal ID21498561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170040686..170040944hg38UCSC Ensembl
chr5:169467690..169467948hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572404
Supporting Variants
SamplesNA19239
Known GenesDOCK2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130598
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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