A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139083



Internal ID18934090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4612007..4612066hg38UCSC Ensembl
Outerchr3:4653691..4653750hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991705
SamplesKWS2
Known GenesITPR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139083
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