A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129105



Internal ID18905064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153739346..153750646hg38UCSC Ensembl
OuterchrX:153004800..153016100hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3811301
hg1911301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961779
SamplesKWS1
Known GenesABCD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129105
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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