A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041776



Internal ID18784307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20893865..20956559hg38UCSC Ensembl
Innerchr14:21362024..21424718hg19UCSC Ensembl
Innerchr14:20431864..20494558hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3862695
hg1962695
hg1862695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1802n100
Supporting Variantsnssv3532100, nssv3532099, nssv3532094, nssv3532097, nssv3532098, nssv3532101, nssv3532096, nssv3532095
Samples
Known GenesECRP, RNASE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041776
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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