A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007204



Internal ID19096422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9455251..9705444hg38UCSC Ensembl
Innerchr4:9456977..9707068hg19UCSC Ensembl
Innerchr4:9066075..9316166hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38250194
hg19250092
hg18250092
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5104n100
Supporting Variantsnssv3738204
Samples
Known GenesLOC650293, MIR548I2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007204
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