A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123738



Internal ID18915818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1092974..1093039hg38UCSC Ensembl
Outerchr4:1086762..1086827hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957083, nssv3973511
SamplesKWS1, KWS2
Known GenesRNF212
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123738
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