A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978444



Internal ID53007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2780036..2780133hg38UCSC Ensembl
chr6:2780270..2780367hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455171
Supporting Variants
Samples
Known GenesWRNIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978444
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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