A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4238n106



Internal ID22798066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50018691..50025391hg38UCSC Ensembl
chrX:49783300..49790000hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg386701
hg196701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1140027, nsv1132763
SamplesKWS2, KWS1
Known GenesCLCN5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4238n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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