A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4317n106



Internal ID22798145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:150417526..150421126hg38UCSC Ensembl
chrX:149585800..149589400hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1125135, nsv1110631
SamplesKWS2, KWS1
Known GenesMAMLD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4317n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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