A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568737



Internal ID21517087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216058135..216058651hg38UCSC Ensembl
chr1:216231477..216231993hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062695
SamplesHG03486
Known GenesUSH2A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568737
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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