A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18038185



Internal ID20605225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75981477..75985750hg38UCSC Ensembl
chr17:73977558..73981831hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384274
hg194274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6529763
Supporting Variants
Samples
Known GenesTEN1, TEN1-CDK3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18038185
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0002


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