A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117914



Internal ID18919657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120112443..120112544hg38UCSC Ensembl
OuterchrX:119246378..119246454hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38102
hg1977
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980116
SamplesKWS2
Known GenesRHOXF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117914
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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