A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069744



Internal ID18969827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31845762..31847363hg38UCSC Ensembl
chr13:32419899..32421500hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766084
SamplesKWP1
Known GenesEEF1DP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069744
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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