A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141677



Internal ID18935199
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 StatusM
Merged Variants
Supporting Variantsnssv3993183
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)nsv1141677
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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