A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17474513



Internal ID22532407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48767181..48773737hg38UCSC Ensembl
chr17:46844543..46851099hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg386557
hg196557
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878866
Supporting Variants
Samples
Known GenesTTLL6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17474513
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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