A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4241n106



Internal ID22798069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:54118467..54124767hg38UCSC Ensembl
chrX:54144900..54151200hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg386301
hg196301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1132767, nsv1140029
SamplesKWS2, KWS1
Known GenesFAM120C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4241n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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