A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446549



Internal ID224872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127170686..127212336hg38UCSC Ensembl
chr2:127928262..127969912hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3841651
hg1941651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917734
Samples
Known GenesCYP27C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446549
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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