A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517252



Internal ID8411527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:902327..910634hg38UCSC Ensembl
Innerchr18:902328..910635hg19UCSC Ensembl
Innerchr18:892328..900635hg18UCSC Ensembl
Innerchr18:892328..900635hg17UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg388308
hg198308
hg188308
hg178308
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667619, nssv665901, nssv659745, nssv682229, nssv689287, nssv677920, nssv654756, nssv684690, nssv679776, nssv670475, nssv672763, nssv682561, nssv687068, nssv669933, nssv669581, nssv674199, nssv680968, nssv670611, nssv666078, nssv667003, nssv667571, nssv677695, nssv691307, nssv672177, nssv652309, nssv671206, nssv674679, nssv657097, nssv661146, nssv657140, nssv659357, nssv669273, nssv687522, nssv652867, nssv678475, nssv671522, nssv674411, nssv680795, nssv658413, nssv666514, nssv657787, nssv680707, nssv677730, nssv660867, nssv667400, nssv673342, nssv651939, nssv656211, nssv662642, nssv664430, nssv671053, nssv664283, nssv676857, nssv670960, nssv679898, nssv675228, nssv689039, nssv673398, nssv673026, nssv664822, nssv686020, nssv693802, nssv682598, nssv687637, nssv662407, nssv674560, nssv685419, nssv673993, nssv674092, nssv677768, nssv662099, nssv687025, nssv691982, nssv683341, nssv682292, nssv657842, nssv661018, nssv654073, nssv652173, nssv692893, nssv676686, nssv683858, nssv687935, nssv674534, nssv653753, nssv655690, nssv663281, nssv682325, nssv674164, nssv678597, nssv678752, nssv679405, nssv694010, nssv679469, nssv652896, nssv672660, nssv665866, nssv688336, nssv669597, nssv684596, nssv661838, nssv655935, nssv657689, nssv692751, nssv657497
Samples
Known GenesADCYAP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517252
Frequency
Sample Size2026
Observed Gain0
Observed Loss105
Observed Complex0
Frequencyn/a


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