A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070433



Internal ID18969388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12396906..12396959hg38UCSC Ensembl
chr11:12418453..12418506hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765266
SamplesKWP1
Known GenesPARVA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070433
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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