A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954472



Internal ID16956659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42683809..42713908hg38UCSC Ensembl
Outerchr3:42725301..42755400hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3830100
hg1930100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001368
SamplesBILGI_BIOE
Known GenesCCDC13, HHATL, KLHL40
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954472
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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