A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv517252

Internal ID6014672
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:902328..910635hg19UCSC Ensembl
Innerchr18:892328..900635hg18UCSC Ensembl
Innerchr18:892328..900635hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv667619, nssv665901, nssv659745, nssv682229, nssv689287, nssv677920, nssv654756, nssv684690, nssv670475, nssv679776, nssv672763, nssv682561, nssv687068, nssv669933, nssv669581, nssv674199, nssv680968, nssv670611, nssv667003, nssv666078, nssv677695, nssv667571, nssv691307, nssv672177, nssv674679, nssv652309, nssv671206, nssv657097, nssv661146, nssv657140, nssv659357, nssv669273, nssv687522, nssv652867, nssv671522, nssv674411, nssv678475, nssv658413, nssv680795, nssv666514, nssv657787, nssv680707, nssv677730, nssv660867, nssv667400, nssv673342, nssv651939, nssv656211, nssv662642, nssv664430, nssv671053, nssv664283, nssv676857, nssv670960, nssv679898, nssv675228, nssv689039, nssv673398, nssv673026, nssv664822, nssv693802, nssv686020, 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, nssv672660, nssv652896, nssv665866, nssv688336, nssv669597, nssv684596, nssv661838, nssv655935, nssv657689, nssv692751, nssv657497
Known GenesADCYAP1
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv517252
Sample Size2026
Observed Gain0
Observed Loss105
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer