A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194612



Internal ID20761652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38794804..38968924hg38UCSC Ensembl
chr17:36951057..37125177hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38174121
hg19174121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6500887
Supporting Variants
Samples
Known GenesC17orf98, CWC25, FBXO47, LASP1, LINC00672, MIR4727, MIR6779, PIP4K2B, RPL23, SNORA21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194612
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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