A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16991542



Internal ID61771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5142858..5773733hg38UCSC Ensembl
chr7:5182489..5813364hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38630876
hg19630876
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554692
Supporting Variants
Samples
Known GenesACTB, FBXL18, FSCN1, MIR589, MIR6874, RNF216, RNF216-IT1, SLC29A4, TNRC18, WIPI2, ZNF890P
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16991542
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000624


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