A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952259



Internal ID16954446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103517464..103550063hg38UCSC Ensembl
Outerchr14:103983801..104016400hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3832600
hg1932600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998419
SamplesBILGI_BIOE
Known GenesCKB, TRMT61A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952259
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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