A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6001189



Internal ID21910532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:121472459..122035370hg38UCSC Ensembl
chr5:120808154..121371065hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38562912
hg19562912
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17555204
Samples
Known GenesFTMT, SRFBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6001189
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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