A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125096



Internal ID19249163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:63227321..63235922hg38UCSC Ensembl
OuterchrX:62447200..62455800hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg388602
hg198601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977901
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125096
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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