A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5909170



Internal ID22684380
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 StatusM
Merged Variants
Supporting Variantsnssv17435462
Samples
Known GenesNXPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5909170
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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