A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18034147



Internal ID20601187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12047039..12047640hg38UCSC Ensembl
chr17:11950356..11950957hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6503339
Supporting Variants
Samples
Known GenesMAP2K4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18034147
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00032


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