A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6021017



Internal ID21930360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11854793..11892682hg38UCSC Ensembl
chr18:11854792..11892681hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3837890
hg1937890
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17633801
Samples
Known GenesGNAL, MPPE1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6021017
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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