A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003369



Internal ID18841287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246232497..246234398hg38UCSC Ensembl
Outerchr1:246395799..246397700hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154092
Supporting Variants
SamplesKWB1
Known GenesSMYD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003369
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer