A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326745



Internal ID20859882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153112507..153140483hg38UCSC Ensembl
chr1:153084983..153112959hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3827977
hg1927977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200466
Samples
Known GenesSPRR2C, SPRR2F
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326745
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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