A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044554



Internal ID18787085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20865928..20987933hg38UCSC Ensembl
Innerchr14:21334087..21456092hg19UCSC Ensembl
Innerchr14:20403927..20525932hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38122006
hg19122006
hg18122006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712128
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)nsv1044554
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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