A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003545



Internal ID18746076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1696467..1760882hg38UCSC Ensembl
Innerchr1:1627906..1692321hg19UCSC Ensembl
Innerchr1:1617766..1682181hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3864416
hg1964416
hg1864416
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3477823, nssv3467704
Samples
Known GenesCDK11A, CDK11B, MMP23A, NADK, SLC35E2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003545
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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