A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548930



Internal ID322638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:111908302..111908335hg38UCSC Ensembl
chr7:111548358..111548391hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001608
Samples
Known GenesDOCK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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