A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952818



Internal ID16955005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24249495..24270894hg38UCSC Ensembl
Outerchr14:24718701..24740100hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3821400
hg1921400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998317
SamplesBILGI_BIOE
Known GenesRABGGTA, TGM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952818
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