A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118431



Internal ID18915517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25283709..25287809hg38UCSC Ensembl
Outerchr1:25610200..25614300hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv64n106
Supporting Variantsnssv3958937
SamplesKWS1
Known GenesRHD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118431
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