A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4237n106



Internal ID20163594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49540397..49606497hg38UCSC Ensembl
chrX:49305000..49371100hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3866101
hg1966101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1132762, nsv1140026
SamplesKWS1, KWS2
Known GenesGAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE6, GAGE8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4237n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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