A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578505



Internal ID21526974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169866011..169866071hg38UCSC Ensembl
chr5:169293015..169293075hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17132914
SamplesHG00731
Known GenesDOCK2, FAM196B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578505
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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