A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919371



Internal ID22694593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65968572..65998392hg38UCSC Ensembl
chr7:65433559..65463379hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3829821
hg1929821
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17431303
Samples
Known GenesGUSB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919371
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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