A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4214n106



Internal ID22798042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18105580..18110680hg38UCSC Ensembl
chrX:18123700..18128800hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1140018, nsv1119332
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4214n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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