A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129071



Internal ID19287315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:19142982..19148982hg38UCSC Ensembl
OuterchrX:19161100..19167100hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4215n106
Supporting Variantsnssv3961744
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129071
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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