A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016930



Internal ID19106147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:3587663..3665425hg38UCSC Ensembl
Innerchr7:3627295..3705057hg19UCSC Ensembl
Innerchr7:3593821..3671583hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3877763
hg1977763
hg1877763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655009
Samples
Known GenesSDK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016930
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