A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150548



Internal ID19195540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:100509055..100516156hg38UCSC Ensembl
Outerchr3:100227899..100235000hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg387102
hg197102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996022
SamplesKWB1
Known GenesTMEM45A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150548
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