A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17442437



Internal ID22500307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:79689524..79780574hg38UCSC Ensembl
chr7:79318840..79409890hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3891051
hg1991051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5926356
Supporting Variants
Samples
Known GenesMIR548M
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17442437
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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