A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980116



Internal ID18885616
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 StatusS
Merged Variantsnsv1117914
Supporting Variants
SamplesKWS2
Known GenesRHOXF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980116
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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