A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3957352



Internal ID19218432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45543212..45543270hg38UCSC Ensembl
Outerchr3:45584704..45584762hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127954
Supporting Variants
SamplesKWS1
Known GenesLARS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3957352
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