A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418916



Internal ID198070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34011237..34011356hg38UCSC Ensembl
chr1:34476838..34476957hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900579
Samples
Known GenesCSMD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418916
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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