A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436419



Internal ID215035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197712587..197728793hg38UCSC Ensembl
chr1:197681717..197697923hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3816207
hg1916207
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895134
Samples
Known GenesDENND1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436419
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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