A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125234



Internal ID19252639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128146559..128146611hg38UCSC Ensembl
Outerchr3:127865402..127865454hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978039
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125234
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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