A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18228797



Internal ID20795837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6692601..6832100hg38UCSC Ensembl
chr7:6732232..6871731hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38139500
hg19139500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6606737
Supporting Variants
Samples
Known GenesCCZ1B, PMS2CL, RSPH10B, RSPH10B2, ZNF12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18228797
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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