A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075848



Internal ID19319533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117125994..117129595hg38UCSC Ensembl
chr12:117563799..117567400hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767756
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075848
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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