A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997280



Internal ID18810130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39717345..39848248hg38UCSC Ensembl
Innerchr1:40183017..40313920hg19UCSC Ensembl
Innerchr1:39955604..40086507hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38130904
hg19130904
hg18130904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv153n100
Supporting Variantsnssv3463527
Samples
Known GenesBMP8B, OXCT2, PPIE, TRIT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997280
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