A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998347



Internal ID16944613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:60249983..60284582hg38UCSC Ensembl
Outerchr14:60716701..60751300hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3834600
hg1934600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952845
Supporting Variants
SamplesBILGI_BIOE
Known GenesPPM1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998347
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