A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114055



Internal ID18913440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:15608713..15608796hg38UCSC Ensembl
Outerchr2:15748837..15748920hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973536
SamplesKWS2
Known GenesDDX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114055
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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