A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040201



Internal ID18782732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20880514..20934425hg38UCSC Ensembl
Innerchr14:21348673..21402584hg19UCSC Ensembl
Innerchr14:20418513..20472424hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3853912
hg1953912
hg1853912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1801n100
Supporting Variantsnssv3712132, nssv3712133
Samples
Known GenesECRP, RNASE3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040201
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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