A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4290n106



Internal ID22798118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130959326..130964726hg38UCSC Ensembl
chrX:130093300..130098700hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1110621, nsv1125124
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4290n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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