A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954475



Internal ID17303349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:44318909..44344308hg38UCSC Ensembl
Outerchr3:44360401..44385800hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3825400
hg1925400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001371
SamplesBILGI_BIOE
Known GenesTCAIM, TOPAZ1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954475
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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