A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976700



Internal ID19229658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:94038434..94042534hg38UCSC Ensembl
Outerchr11:93771600..93775700hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124645
Supporting Variants
SamplesKWS2
Known GenesHEPHL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976700
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