A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529780



Internal ID22399171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2885866..2885921hg38UCSC Ensembl
chr12:2995032..2995087hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361856, nssv14361853, nssv14361854, nssv14361855
SamplesHG00512, NA19238, NA19239, NA19240
Known GenesRHNO1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529780
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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