A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17137782



Internal ID21484136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143238970..143240293hg38UCSC Ensembl
chr5:142618535..142619858hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381324
hg191324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5571138
Supporting Variants
SamplesNA12329
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17137782
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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