A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141667



Internal ID19279611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:25770783..25779983hg38UCSC Ensembl
OuterchrX:25788900..25798100hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg389201
hg199201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993173
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141667
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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