A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17154558



Internal ID21486405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78813976..78816046hg38UCSC Ensembl
chr5:78109799..78111869hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5578049
Supporting Variants
SamplesNA12878
Known GenesARSB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17154558
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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