A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182146



Internal ID20749186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28346501..28430000hg38UCSC Ensembl
chr17:26673527..26757018hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3883500
hg1983492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6498261
Supporting Variants
Samples
Known GenesMIR4723, POLDIP2, SARM1, SEBOX, SLC46A1, TMEM199, TNFAIP1, VTN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182146
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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