A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999748



Internal ID16946014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:69348021..69360120hg38UCSC Ensembl
Outerchr12:69741801..69753900hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3812100
hg1912100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952201
Supporting Variants
SamplesBILGI_BIOE
Known GenesLYZ, YEATS4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999748
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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