A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517055



Internal ID15097662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105136282..106779068hg38UCSC Ensembl
Innerchr14:105602619..107187307hg19UCSC Ensembl
Innerchr14:104673664..106258352hg18UCSC Ensembl
Innerchr14:104673664..106258352hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381642787
hg191584689
hg181584689
hg171584689
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701952, nssv685240, nssv695286, nssv661898, nssv686527, nssv702726, nssv659479, nssv683884, nssv656228, nssv671259, nssv693873, nssv655787, nssv679043, nssv694763, nssv653388, nssv656699, nssv672782, nssv686863, nssv673945, nssv681440, nssv677894, nssv656609, nssv691669, nssv705569, nssv682552, nssv659962, nssv684711, nssv652654, nssv658946, nssv674275, nssv653699, nssv682875, nssv666338, nssv658362, nssv695966, nssv664868, nssv678723, nssv653137, nssv692372, nssv662757, nssv700330, nssv697278, nssv688170, nssv703550, nssv658319, nssv695997, nssv705916, nssv688925
Samples
Known GenesADAM6, BRF1, BTBD6, C14orf80, CRIP1, CRIP2, ELK2AP, JAG2, KIAA0125, LINC00221, LINC00226, MIR6765, MIR8071-1, MIR8071-2, MTA1, NUDT14, PACS2, TEX22, TMEM121
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517055
Frequency
Sample Size2026
Observed Gain23
Observed Loss25
Observed Complex0
Frequencyn/a


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