A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141003



Internal ID340197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80623781..81630256hg38UCSC Ensembl
chr4:81544935..82551410hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg381006476
hg191006476
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16953168
Samples
Known GenesBMP3, C4orf22, PRKG2, RASGEF1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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