A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227949



Internal ID20794989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116863301..116867100hg38UCSC Ensembl
chr7:116503355..116507154hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6606401
Supporting Variants
Samples
Known GenesCAPZA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227949
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00056


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