A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004245



Internal ID18746776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:24337..210661hg38UCSC Ensembl
Innerchr3:66011..252344hg19UCSC Ensembl
Innerchr3:41011..227344hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38186325
hg19186334
hg18186334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4607n100
Supporting Variantsnssv3590233
Samples
Known GenesCHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004245
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