A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528432



Internal ID22397820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68781069..68781123hg38UCSC Ensembl
chr12:69174849..69174903hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361916, nssv14361915, nssv14361918, nssv14361917
SamplesNA19238, NA19239, HG00732, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528432
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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