A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148643



Internal ID19197599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:156020234..156028735hg38UCSC Ensembl
OuterchrX:155249899..155258400hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg388502
hg198502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000685
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148643
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