A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129073



Internal ID19281243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:31077583..31083083hg38UCSC Ensembl
OuterchrX:31095700..31101200hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961746
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129073
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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