A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624870



Internal ID21573175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53137136..53137136hg38UCSC Ensembl
chr5:52432966..52432966hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17123577, nssv17138304
SamplesHG03125, HG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624870
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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