A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17131016



Internal ID21471883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138951052..138951115hg38UCSC Ensembl
chr5:138286741..138286804hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5570788
Supporting Variants
SamplesHG03125
Known GenesSIL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17131016
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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