A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17123166



Internal ID21479035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40833724..40833784hg38UCSC Ensembl
chr5:40833826..40833886hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5570568
Supporting Variants
SamplesHG03486
Known GenesRPL37
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17123166
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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