A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125872



Internal ID18908906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24421475..24421556hg38UCSC Ensembl
Outerchr6:24421703..24421784hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984078
SamplesKWS2
Known GenesMRS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125872
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