A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13700888



Internal ID21222727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56098430..56098430hg38UCSC Ensembl
chr6:55963228..55963228hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2814961
Supporting Variants
Samples
Known GenesCOL21A1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13700888
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.844828


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