A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991779



Internal ID18883983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:120702803..120706614hg38UCSC Ensembl
Outerchr3:120421650..120425461hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg383812
hg193812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139153
Supporting Variants
SamplesKWS2
Known GenesRABL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991779
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