A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415058



Internal ID194320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114635403..114638749hg38UCSC Ensembl
chr1:115178024..115181370hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383347
hg193347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889614
Samples
Known GenesDENND2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415058
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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