A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003784



Internal ID19093002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143982530..145187137hg19UCSC Ensembl
Innerchr1:142693888..143898494hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg191204608
hg181204607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv316n100
Supporting Variantsnssv3485805
Samples
Known GenesLINC00623, LOC100288142, LOC653513, LOC728875, NBPF12, NBPF8, NBPF9, PDE4DIP, PFN1P2, PPIAL4A, PPIAL4B, PPIAL4C, SEC22B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003784
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