A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109488



Internal ID18921864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4807130..4807185hg38UCSC Ensembl
Outerchr3:4848814..4848869hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956954
SamplesKWS1
Known GenesITPR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109488
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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