A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012249



Internal ID19101467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:21943888..21970749hg38UCSC Ensembl
Innerchr3:21985380..22012241hg19UCSC Ensembl
Innerchr3:21960384..21987245hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3826862
hg1926862
hg1826862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4697n100
Supporting Variantsnssv3589454, nssv3589455, nssv3589453, nssv3589463, nssv3589468, nssv3589467, nssv3589462, nssv3589456, nssv3589469, nssv3589460, nssv3589464, nssv3589459, nssv3589466, nssv3589461, nssv3589465, nssv3589457, nssv3589458
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)nsv1012249
Frequency
Sample Size11257
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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