A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547209



Internal ID321083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75372681..75372729hg38UCSC Ensembl
chr6:76082397..76082445hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985615
Samples
Known GenesFILIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547209
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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