A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123697



Internal ID18904219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:150553114..150553183hg38UCSC Ensembl
Outerchr3:150270901..150270970hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973472
SamplesKWS2
Known GenesEIF2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123697
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