A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385920



Internal ID22443790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11654378..11654378hg38UCSC Ensembl
chr17:11557695..11557695hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976614
Supporting Variants
Samples
Known GenesDNAH9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385920
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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