A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894625



Internal ID170586
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 StatusS
Merged Variantsnsv5443012
Supporting Variants
Samples
Known GenesC1orf106, CAMSAP2, GPR25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894625
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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