A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978125



Internal ID19230405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:18930708..18935408hg38UCSC Ensembl
Outerchr3:18972200..18976900hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg384701
hg194701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139788
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978125
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