A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184860



Internal ID20751900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16775001..16844900hg38UCSC Ensembl
chr17:16678315..16748214hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3869900
hg1969900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6509212
Supporting Variants
Samples
Known GenesFAM106CP, KRT16P2, USP32P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184860
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.31659


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