A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598734



Internal ID16386143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78874178..78936630hg38UCSC Ensembl
Innerchr5:78170001..78232453hg19UCSC Ensembl
Innerchr5:78205757..78268209hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3862453
hg1962453
hg1862453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035289
Samples
Known GenesARSB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598734
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