A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17049579



Internal ID100943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85605696..85614000hg38UCSC Ensembl
chr11:85316740..85325044hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg388305
hg198305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513343
Supporting Variants
Samples
Known GenesDLG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17049579
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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