A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994378



Internal ID19225680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:66558929..66560329hg38UCSC Ensembl
Outerchr11:66326400..66327800hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143689
Supporting Variants
SamplesKWS1
Known GenesACTN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994378
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