A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071489



Internal ID18972125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1148300..1149101hg38UCSC Ensembl
chr19:1148299..1149100hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770279
SamplesKWP1
Known GenesSBNO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071489
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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