A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139398



Internal ID19278141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:33190462..33190786hg38UCSC Ensembl
OuterchrX:33208579..33208903hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992570, nssv3958879
SamplesKWS2, KWS1
Known GenesDMD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139398
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer