A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357209



Internal ID22582878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18304188..18322664hg38UCSC Ensembl
chr11:18325735..18344211hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3818477
hg1918477
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5908884
Supporting Variants
Samples
Known GenesGTF2H1, HPS5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357209
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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