A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987552



Internal ID18866773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49549997..49606497hg38UCSC Ensembl
OuterchrX:49314600..49371100hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3856501
hg1956501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132762
Supporting Variants
SamplesKWS1
Known GenesGAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987552
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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