A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048382



Internal ID100125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74225600..74828943hg38UCSC Ensembl
chr11:73936645..74539988hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38603344
hg19603344
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494028
Supporting Variants
Samples
Known GenesCHRDL2, KCNE3, LIPT2, MIR4696, P4HA3, PGM2L1, POLD3, PPME1, RNF169
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048382
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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