A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17435462



Internal ID22493332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:8270195..8916256hg38UCSC Ensembl
chr7:8309825..8955886hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38646062
hg19646062
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5909170
Supporting Variants
Samples
Known GenesNXPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17435462
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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