A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998418



Internal ID16944684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103386664..103405163hg38UCSC Ensembl
Outerchr14:103853001..103871500hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3818500
hg1918500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952258
Supporting Variants
SamplesBILGI_BIOE
Known GenesMARK3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998418
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