A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4271n106



Internal ID20163628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107155770..107161770hg38UCSC Ensembl
chrX:106399000..106405000hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1125116, nsv1129091
SamplesKWS1, KWS2
Known GenesNUP62CL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4271n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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