A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110594



Internal ID19251947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:11707580..11712980hg38UCSC Ensembl
OuterchrX:11725700..11731100hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4210n106
Supporting Variantsnssv3960248
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110594
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