A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062578



Internal ID21478014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20294629..20294629hg38UCSC Ensembl
chr1:20621122..20621122hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5621564
Supporting Variants
SamplesHG03486
Known GenesVWA5B1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062578
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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