A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597121



Internal ID16384530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10563087..10564360hg38UCSC Ensembl
Innerchr5:10563199..10564472hg19UCSC Ensembl
Innerchr5:10616199..10617472hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381274
hg191274
hg181274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1025212, nssv1025213
Samples
Known GenesANKRD33B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597121
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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