A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075440



Internal ID18974214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46603816..46606817hg38UCSC Ensembl
chr12:46997599..47000600hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764837
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075440
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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