A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148781



Internal ID18855462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:134955127..134955716hg38UCSC Ensembl
Outerchr3:134673969..134674558hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997567
SamplesKWB1
Known GenesEPHB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148781
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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