A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193726



Internal ID20760766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2631329..2974893hg38UCSC Ensembl
chr17:2534623..2878187hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38343565
hg19343565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6502798
Supporting Variants
Samples
Known GenesCLUH, MIR1253, MIR6776, PAFAH1B1, RAP1GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193726
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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