A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034900



Internal ID15888086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70080597..70083422hg38UCSC Ensembl
Innerchr5:69376424..69379249hg19UCSC Ensembl
Innerchr5:69412180..69415005hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382826
hg192826
hg182826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598520
Supporting Variants
Samples
Known GenesSMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034900
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer