A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4212n106



Internal ID22798040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13131981..13138981hg38UCSC Ensembl
chrX:13150100..13157100hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1110596, nsv1141664
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4212n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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