A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019888



Internal ID18762423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10673231..11457158hg38UCSC Ensembl
Innerchr7:10712858..11496785hg19UCSC Ensembl
Innerchr7:10679383..11463310hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38783928
hg19783928
hg18783928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3642915
Samples
Known GenesNDUFA4, PHF14, THSD7A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019888
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