A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129093



Internal ID19283371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:115843267..115886067hg38UCSC Ensembl
OuterchrX:114959600..115002400hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3842801
hg1942801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4280n106
Supporting Variantsnssv3961766
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129093
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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