A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516976



Internal ID15444269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:14562300..14583054hg38UCSC Ensembl
Innerchr2:14702424..14723178hg19UCSC Ensembl
Innerchr2:14619875..14640629hg18UCSC Ensembl
Innerchr2:14653022..14673776hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3820755
hg1920755
hg1820755
hg1720755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690366, nssv659592, nssv690194, nssv687666, nssv697620, nssv688861, nssv661608, nssv676383, nssv656588, nssv684783, nssv693545, nssv657887, nssv674979, nssv682021, nssv658736, nssv655329, nssv665334, nssv669711, nssv663187, nssv655652, nssv654845, nssv653540, nssv693009, nssv684885, nssv680649, nssv654959, nssv653676, nssv669725, nssv671940, nssv653367, nssv676358, nssv687910, nssv657664, nssv687154, nssv652801, nssv692003, nssv691584, nssv667726, nssv676469, nssv672528, nssv688719, nssv652822, nssv667877, nssv684546, nssv693780, nssv656935, nssv659873, nssv666591, nssv654475, nssv667597, nssv654358, nssv659245, nssv663214, nssv654697, nssv651673, nssv662602, nssv683994, nssv657815, nssv655237, nssv693353, nssv672215, nssv677641, nssv675505, nssv672592, nssv670819, nssv652558, nssv671660, nssv673925, nssv677614, nssv654256, nssv683052
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516976
Frequency
Sample Size2026
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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