A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17570921



Internal ID21762964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56060678..56060678hg38UCSC Ensembl
chr6:55925476..55925476hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6076599
Supporting Variants
Samples
Known GenesCOL21A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17570921
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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