A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122778



Internal ID21419291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138143607..138143672hg38UCSC Ensembl
chr5:137479296..137479361hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572584
Supporting Variants
SamplesHG00731
Known GenesBRD8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122778
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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