A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999428



Internal ID19187518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:11707379..11712980hg38UCSC Ensembl
OuterchrX:11725499..11731100hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg385602
hg195602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146226
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999428
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