A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953412



Internal ID16955599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49528798..49602297hg38UCSC Ensembl
OuterchrX:49293401..49366900hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3873500
hg1973500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000883
SamplesBILGI_BIOE
Known GenesGAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE2C, GAGE2E, GAGE6, GAGE8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953412
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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