A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048281



Internal ID19137500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:83394319..83477873hg38UCSC Ensembl
Innerchr14:83860663..83944217hg19UCSC Ensembl
Innerchr14:82930416..83013970hg18UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg3883555
hg1983555
hg1883555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1946n100
Supporting Variantsnssv3532345
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048281
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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