A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000077



Internal ID18839902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49569596..49574697hg38UCSC Ensembl
OuterchrX:49334199..49339300hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg385102
hg195102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147303
Supporting Variants
SamplesKWB1
Known GenesGAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12I, GAGE6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000077
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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