A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045451



Internal ID18787982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20872480..20934425hg38UCSC Ensembl
Innerchr14:21340639..21402584hg19UCSC Ensembl
Innerchr14:20410479..20472424hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3861946
hg1961946
hg1861946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1799n100
Supporting Variantsnssv3530731, nssv3530732
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)nsv1045451
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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