A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070246



Internal ID18980013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105180862..105181463hg38UCSC Ensembl
chr14:105647199..105647800hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762877
SamplesKWP1
Known GenesNUDT14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070246
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