A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546191



Internal ID320168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57084035..57084053hg38UCSC Ensembl
chr4:57950201..57950219hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951156
Samples
Known GenesIGFBP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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