A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125086



Internal ID19270481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:30767983..30772483hg38UCSC Ensembl
OuterchrX:30786100..30790600hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg384501
hg194501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977891
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125086
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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