A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047862



Internal ID18790393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:70131959..70523371hg38UCSC Ensembl
Innerchr9:72746875..73138287hg19UCSC Ensembl
Innerchr9:71936695..72328107hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38391413
hg19391413
hg18391413
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696350
Samples
Known GenesKLF9, MAMDC2, MAMDC2-AS1, SMC5, SMC5-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047862
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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