A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16888949



Internal ID166692
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 StatusS
Merged Variantsnsv5418361
Supporting Variants
Samples
Known GenesGDAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16888949
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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