A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074627



Internal ID18970390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134955094..134955715hg38UCSC Ensembl
chr3:134673936..134674557hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38622
hg19622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762752
SamplesKWP1
Known GenesEPHB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074627
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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