A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517173



Internal ID15444466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75329934..75598736hg38UCSC Ensembl
Innerchr3:75379085..75647887hg19UCSC Ensembl
Innerchr3:75461775..75730577hg18UCSC Ensembl
Innerchr3:75461775..75730577hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38268803
hg19268803
hg18268803
hg17268803
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv678330, nssv670890, nssv672683, nssv657210, nssv663970, nssv663801, nssv691610, nssv663903, nssv679925, nssv665018, nssv655775, nssv655912, nssv679504, nssv687673, nssv652480, nssv684152, nssv684975, nssv687728, nssv660693, nssv676301, nssv652222, nssv676016, nssv688345, nssv674613, nssv668278, nssv685648, nssv678259, nssv668135, nssv675734, nssv652077, nssv683227, nssv685228, nssv671784, nssv669282, nssv655830, nssv657349, nssv688074, nssv670590, nssv658754, nssv687755, nssv654261, nssv656263, nssv684134, nssv659278, nssv659371, nssv687852, nssv677794, nssv664614, nssv690483, nssv684785, nssv677561, nssv652403, nssv659923, nssv705296, nssv699147, nssv663192, nssv698829, nssv662111, nssv652370, nssv686566, nssv663048, nssv661637, nssv654184, nssv685745, nssv659178, nssv701350, nssv690959, nssv673452, nssv679764, nssv670696, nssv681535, nssv653927, nssv653313, nssv685380, nssv666289, nssv681814, nssv680656, nssv671325, nssv674956, nssv677854, nssv667920, nssv657168, nssv688126, nssv664532, nssv693837, nssv681260, nssv682629, nssv678912, nssv654137, nssv671418, nssv670785, nssv652803, nssv679666, nssv667689, nssv667713, nssv668958, nssv667661, nssv669692, nssv661476, nssv657025, nssv687565, nssv691312, nssv653983, nssv681023, nssv655888, nssv654828, nssv656128, nssv675888, nssv676665, nssv692635
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517173
Frequency
Sample Size2026
Observed Gain1
Observed Loss109
Observed Complex0
Frequencyn/a


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