A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006954



Internal ID19096172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:68671694..68698250hg38UCSC Ensembl
Innerchr3:68720845..68747401hg19UCSC Ensembl
Innerchr3:68803535..68830091hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3826557
hg1926557
hg1826557
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4771n100
Supporting Variantsnssv3594126, nssv3594078, nssv3594103, nssv3594146, nssv3594120, nssv3594082, nssv3594101, nssv3594119, nssv3594060, nssv3594072, nssv3594141, nssv3594102, nssv3594091, nssv3594114, nssv3594121, nssv3594118, nssv3594074, nssv3594075, nssv3594112, nssv3594059, nssv3594131, nssv3594122, nssv3594073, nssv3594066, nssv3594055, nssv3594138, nssv3594081, nssv3594068, nssv3594109, nssv3594097, nssv3594117, nssv3594116, nssv3594069, nssv3594132, nssv3732979, nssv3594136, nssv3594087, nssv3594085, nssv3594077, nssv3594142, nssv3594129, nssv3594104, nssv3594071, nssv3594064, nssv3594111, nssv3594063, nssv3594145, nssv3594130, nssv3594086, nssv3594137, nssv3594115, nssv3594106, nssv3594079, nssv3594053, nssv3594099, nssv3594143, nssv3594070, nssv3594089, nssv3594095, nssv3594107, nssv3594058, nssv3594140, nssv3594096, nssv3594144, nssv3594108, nssv3594061, nssv3594056, nssv3594093, nssv3594124, nssv3594080, nssv3594084, nssv3594134, nssv3594123, nssv3594054, nssv3594135, nssv3594092, nssv3594125, nssv3594105, nssv3594113, nssv3594094, nssv3594065, nssv3594133, nssv3594128, nssv3594090, nssv3594100, nssv3594067, nssv3594139, nssv3594088, nssv3594076, nssv3594127, nssv3594083, nssv3594110, nssv3594098, nssv3594062, nssv3594057
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)nsv1006954
Frequency
Sample Size11257
Observed Gain17
Observed Loss78
Observed Complex0
Frequencyn/a


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