A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517215



Internal ID15097822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103800276hg38UCSC Ensembl
Innerchr1:104105635..104342898hg19UCSC Ensembl
Innerchr1:103907158..104144421hg18UCSC Ensembl
Innerchr1:103817656..104054919hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38237264
hg19237264
hg18237264
hg17237264
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689055, nssv669783, nssv681934, nssv684879, nssv658618, nssv661358, nssv659396, nssv657469, nssv667055, nssv663350, nssv698380, nssv679391, nssv665921, nssv694004, nssv656427, nssv700146, nssv666199, nssv682585, nssv701551, nssv680609, nssv677517, nssv661892, nssv684662, nssv699575, nssv676244, nssv689783, nssv655140, nssv652851, nssv661436, nssv669736, nssv668749, nssv661265, nssv662552, nssv673940, nssv692505, nssv689741, nssv662118, nssv658161, nssv673576, nssv672517, nssv667390, nssv689696, nssv685020, nssv669653, nssv689642, nssv664445, nssv660447, nssv689302, nssv652881, nssv670430, nssv655958, nssv700627, nssv667356, nssv661787, nssv657883, nssv672123, nssv688568, nssv661247, nssv658586, nssv671100, nssv663227, nssv676498, nssv662179, nssv654029, nssv691321, nssv662162, nssv675863, nssv693420, nssv668374, nssv658115, nssv676029, nssv655273, nssv652155, nssv681455, nssv668444, nssv656532
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517215
Frequency
Sample Size2026
Observed Gain75
Observed Loss1
Observed Complex0
Frequencyn/a


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