A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046078



Internal ID19135297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20888085..20957189hg38UCSC Ensembl
Innerchr14:21356244..21425348hg19UCSC Ensembl
Innerchr14:20426084..20495188hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3869105
hg1969105
hg1869105
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1798n100
Supporting Variantsnssv3530862, nssv3530863
Samples
Known GenesECRP, RNASE2, RNASE3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046078
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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