A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5620506



Internal ID21568811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240536567..240536567hg38UCSC Ensembl
chr1:240699867..240699867hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063794, nssv17063793
SamplesHG00731, HG00513
Known GenesGREM2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5620506
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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