A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145570



Internal ID18918319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114549107..114549170hg38UCSC Ensembl
Outerchr11:114419829..114419892hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983215
SamplesKWS1
Known GenesNXPE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145570
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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