A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6519380



Internal ID20892741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51167451..51169221hg38UCSC Ensembl
chr17:49244812..49246582hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381771
hg191771
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196964
Samples
Known GenesNME1-NME2, NME2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6519380
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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