A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900202



Internal ID927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25340000..25405163hg38UCSC Ensembl
chr1:25666491..25731654hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3865164
hg1965164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414720
Supporting Variants
Samples
Known GenesRHCE, TMEM50A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900202
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000314


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