A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012954



Internal ID19102171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75377944..75499571hg38UCSC Ensembl
Innerchr3:75427095..75548722hg19UCSC Ensembl
Innerchr3:75509785..75631412hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38121628
hg19121628
hg18121628
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4774n100
Supporting Variantsnssv3602123, nssv3602135, nssv3733857, nssv3602147, nssv3602141, nssv3733844, nssv3602130, nssv3602142, nssv3602143, nssv3602124, nssv3733846, nssv3602146, nssv3602132, nssv3733848, nssv3602127, nssv3733853, nssv3733845, nssv3602121, nssv3733855, nssv3602126, nssv3733849, nssv3602148, nssv3602128, nssv3602122, nssv3733843, nssv3602125, nssv3602140, nssv3733856, nssv3602149, nssv3602131, nssv3733852, nssv3733847, nssv3602136, nssv3602145, nssv3602144, nssv3602137, nssv3733851, nssv3602129, nssv3602138, nssv3602134, nssv3733858, nssv3733854, nssv3602133, nssv3733850, nssv3602139
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012954
Frequency
Sample Size11257
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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