A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554692



Internal ID327870
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 StatusM
Merged Variantsdgv448n206
Supporting Variantsnssv16991542
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)nsv5554692
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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