A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504470



Internal ID20877731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29758801..29763100hg38UCSC Ensembl
chr17:28085819..28090118hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187231
Samples
Known GenesSSH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504470
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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