A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17517678



Internal ID21842037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226654952..226654952hg38UCSC Ensembl
chr1:226842653..226842653hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6058472
Supporting Variants
Samples
Known GenesITPKB
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17517678
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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