A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147790



Internal ID19201776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:71741249..71774850hg38UCSC Ensembl
OuterchrX:70961099..70994700hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3833602
hg1933602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996577
SamplesKWB1
Known GenesCXorf49, CXorf49B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147790
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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