A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012529



Internal ID76026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60867890..60867890hg38UCSC Ensembl
chr8:61780449..61780449hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552849
Supporting Variants
Samples
Known GenesCHD7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012529
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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