A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139874



Internal ID19274863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:131698360..131711260hg38UCSC Ensembl
Outerchr6:132019500..132032400hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3812901
hg1912901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978209
SamplesKWS2
Known GenesCTAGE9, ENPP3, OR2A4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139874
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