A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076385



Internal ID19317973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45001..60734hg38UCSC Ensembl
chr12:153899..169900hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3815734
hg1916002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762563
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076385
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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