A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129075



Internal ID19249744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:42202147..42206247hg38UCSC Ensembl
OuterchrX:42061400..42065500hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4230n106
Supporting Variantsnssv3961748
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129075
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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