A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330189



Internal ID20863344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248781378..248821186hg38UCSC Ensembl
chr1:249075577..249115385hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3839809
hg1939809
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202812
Samples
Known GenesSH3BP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330189
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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