A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315688



Internal ID20848760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197497501..197531500hg38UCSC Ensembl
chr1:197466631..197500630hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3834000
hg1934000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202315
Samples
Known GenesDENND1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315688
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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