A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001641



Internal ID16947907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246012799..246025098hg38UCSC Ensembl
Outerchr1:246176101..246188400hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3812300
hg1912300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954012
Supporting Variants
SamplesBILGI_BIOE
Known GenesSMYD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001641
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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