A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384247



Internal ID22442117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102466976..102581682hg38UCSC Ensembl
chr14:102933313..103048019hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38114707
hg19114707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932702
Supporting Variants
Samples
Known GenesANKRD9, MIR4309, TECPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384247
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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