A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062695



Internal ID21478073
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 StatusS
Merged Variantsnsv5568737
Supporting Variants
SamplesHG03486
Known GenesUSH2A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062695
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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