A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17530214



Internal ID21854570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203500071..203500071hg38UCSC Ensembl
chr1:203469199..203469199hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6043380
Supporting Variants
Samples
Known GenesOPTC
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17530214
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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