A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076387



Internal ID19323277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39711297..39714798hg38UCSC Ensembl
chr12:40105099..40108600hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383502
hg193502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764121
SamplesKWP1
Known GenesC12orf40
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076387
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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