A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076389



Internal ID18977453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38045027..38047128hg38UCSC Ensembl
chr1:38510699..38512800hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382102
hg192102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768138
SamplesKWP1
Known GenesPOU3F1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076389
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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