A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380895



Internal ID22438765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30868154..30917670hg38UCSC Ensembl
chr17:29195172..29244688hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3849517
hg1949517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941195
Supporting Variants
Samples
Known GenesATAD5, TEFM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380895
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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