A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152200



Internal ID19203048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154561484..154572247hg38UCSC Ensembl
OuterchrX:153789699..153800500hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3810764
hg1910802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996807
SamplesKWB1
Known GenesFAM223A, FAM223B, IKBKG
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152200
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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