A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219254



Internal ID20786294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6808401..7217700hg38UCSC Ensembl
chr7:6848032..7257331hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38409300
hg19409300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6608388
Supporting Variants
Samples
Known GenesC1GALT1, CCZ1B, LOC100131257
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219254
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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