A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443012



Internal ID221418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200816945..200935553hg38UCSC Ensembl
chr1:200786073..200904681hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38118609
hg19118609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894625
Samples
Known GenesC1orf106, CAMSAP2, GPR25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443012
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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