A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17066025



Internal ID21469064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6155112..6155112hg38UCSC Ensembl
chr1:6215172..6215172hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5607723
Supporting Variants
SamplesHG03125
Known GenesCHD5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17066025
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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