A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146049



Internal ID18853141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155516238..155522039hg38UCSC Ensembl
OuterchrX:154745899..154751700hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg385802
hg195802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997412
SamplesKWB1
Known GenesTMLHE
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146049
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