A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076447



Internal ID19322889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:33691780..33698281hg38UCSC Ensembl
chr17:32018799..32025300hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386502
hg196502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770736
SamplesKWP1
Known GenesASIC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076447
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer