A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418361



Internal ID197534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117886743..117887234hg38UCSC Ensembl
chr1:118429365..118429856hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16888949
Samples
Known GenesGDAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418361
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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