A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448573



Internal ID22506443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30100957..30107835hg38UCSC Ensembl
chr7:30140573..30147451hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg386879
hg196879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5916839
Supporting Variants
Samples
Known GenesPLEKHA8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448573
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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