A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112841



Internal ID18921588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1112712..1113512hg38UCSC Ensembl
Outerchr4:1106500..1107300hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967340, nssv3984936
SamplesKWS1, KWS2
Known GenesRNF212
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112841
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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