A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075854



Internal ID19321222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35761462..35763863hg38UCSC Ensembl
chr13:36335599..36338000hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg382402
hg192402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769411
SamplesKWP1
Known GenesMIR548F5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075854
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