A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585248



Internal ID18883529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13231256hg38UCSC Ensembl
Innerchr21:14364519..14603577hg19UCSC Ensembl
Innerchr21:13286390..13525448hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38239059
hg19239059
hg18239059
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057100
Supporting Variants
Samples
Known GenesANKRD30BP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3585248
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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