A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993183



Internal ID18893025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49530897..49539097hg38UCSC Ensembl
OuterchrX:49295500..49303700hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg388201
hg198201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141677
Supporting Variants
SamplesKWS2
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H, GAGE2A, GAGE2E, GAGE8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993183
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