A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140070



Internal ID19251474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:138778838..138783738hg38UCSC Ensembl
OuterchrX:137861000..137865900hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978406
SamplesKWS2
Known GenesFGF13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140070
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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