A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517006



Internal ID15097613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143823646..144135334hg38UCSC Ensembl
Innerchr4:144744799..145056487hg19UCSC Ensembl
Innerchr4:144964249..145275937hg18UCSC Ensembl
Innerchr4:145102404..145414092hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38311689
hg19311689
hg18311689
hg17311689
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv680094, nssv687180, nssv665617, nssv675283, nssv676965, nssv665048, nssv674316, nssv678199, nssv679859, nssv671448, nssv692384, nssv683786, nssv680519, nssv680777, nssv672323, nssv703052, nssv666352, nssv665972, nssv651786, nssv675644, nssv671301, nssv653791, nssv656364, nssv675234, nssv688800, nssv664261, nssv656788, nssv661638, nssv686844, nssv668561, nssv673877, nssv683695, nssv656496, nssv664042, nssv667980, nssv671944, nssv696468, nssv685822, nssv671241, nssv667156, nssv685303, nssv671240, nssv681339, nssv684055, nssv653036, nssv658334, nssv678648, nssv658131, nssv665047, nssv669869, nssv689314, nssv700185, nssv679476, nssv698386, nssv681382, nssv691658, nssv661076, nssv685881, nssv670350, nssv689271, nssv660544, nssv687033, nssv654409, nssv695482, nssv659437, nssv653603, nssv669388, nssv659022, nssv675150, nssv660598, nssv652204, nssv662152, nssv666948, nssv676940, nssv674987, nssv689517, nssv658626, nssv671857, nssv678869, nssv656365, nssv663491, nssv673972, nssv670171, nssv654503, nssv660656, nssv693068, nssv686881, nssv681582, nssv667755, nssv657369, nssv679442, nssv673489, nssv676087
Samples
Known GenesGYPA, GYPB, GYPE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517006
Frequency
Sample Size2026
Observed Gain6
Observed Loss87
Observed Complex0
Frequencyn/a


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