A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140020



Internal ID19252897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:25311983..25318583hg38UCSC Ensembl
OuterchrX:25330100..25336700hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg386601
hg196601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978356
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140020
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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