A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200200



Internal ID22349686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184256901..184263500hg38UCSC Ensembl
chr3:183974689..183981288hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg386600
hg196600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14310199, nssv14310198, nssv14310195, nssv14310201, nssv14310194, nssv14310196, nssv14310200, nssv14310202, nssv14310197
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCAMK2N2, ECE2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200200
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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