A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17432585



Internal ID22490455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128499704..128999795hg38UCSC Ensembl
chr7:128139758..128639849hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38500092
hg19500092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5914456
Supporting Variants
Samples
Known GenesATP6V1F, CALU, CCDC136, FAM71F1, FAM71F2, FLNC, IRF5, KCP, LINC01000, LOC100130705, METTL2B, OPN1SW, TNPO3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17432585
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01


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