A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013500



Internal ID18756031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228271433..228713854hg38UCSC Ensembl
Innerchr1:228459134..228849601hg19UCSC Ensembl
Innerchr1:226525757..226916224hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38442422
hg19390468
hg18390468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3494116
Samples
Known GenesDUSP5P1, HIST3H2A, HIST3H2BB, HIST3H3, MIR4666A, MIR6742, OBSCN, RHOU, RNF187, TRIM11, TRIM17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013500
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