A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180599



Internal ID20747639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3818000..4220645hg38UCSC Ensembl
chr17:3721294..4123940hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38402646
hg19402647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511190
Supporting Variants
Samples
Known GenesANKFY1, ATP2A3, C17orf85, CAMKK1, CYB5D2, P2RX1, ZZEF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180599
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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