A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471698



Internal ID6064213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44079479..44378253hg19UCSC Ensembl
Innerchr17:41435316..41734030hg18UCSC Ensembl
Innerchr17:41435316..41734030hg17UCSC Ensembl
Innerchr17:44554955..44853669hg16UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
hg16n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv550150, nssv548974, nssv550153, nssv550143, nssv550151, nssv548972, nssv550119, nssv550145, nssv548971, nssv550135, nssv548950, nssv548969, nssv550122, nssv548965, nssv550141, nssv548952, nssv548967, nssv548968, nssv550127, nssv548961, nssv550121, nssv548970, nssv550149, nssv548966, nssv550118, nssv548959, nssv550146, nssv548981, nssv548960, nssv548975, nssv548980, nssv548955, nssv550133, nssv550131, nssv548957, nssv550128, nssv550129, nssv548962, nssv550120, nssv550147, nssv550137, nssv550117, nssv550113, nssv548982, nssv550126, nssv550142, nssv548964, nssv548976, nssv548953, nssv548977, nssv550138, nssv550124, nssv550116, nssv548958, nssv550115, nssv550152, nssv548956, nssv548949, nssv550114, nssv550148, nssv550132, nssv548951, nssv550125, nssv550134, nssv548979, nssv548973, nssv548978, nssv550140, nssv550136, nssv550154, nssv550139, nssv548963, nssv550144, nssv550123, nssv550130, nssv548954
SamplesNA15727, NA10470, NA17016, JK1058, NA11323, NA10494, NA16689, NA11521, NA10496, NA17020, NA10976, NA15724, NA15728, NA10473, NA11523, NA17052, P86GA, NA10970, NA10471, NA15730, NA10469, NA10967, NA16688, NA10969, NA15726, NA15725, NA17059, JK1061, NA17015, JK1051, NA17058, NA10493, JK776, NA10495, NA17014, NA17051, NA15729, NA10492, NA10979, NA17017, JK1688, NA15731, NA10971, NA15733, NA10472
Known GenesARL17A, ARL17B, KIAA1267, LOC644246, LRRC37A, MAPT
Method
AnalysisClones are defined as a single region if <250 kb from a neighbouring concordantly variant clone.
PlatformEichler Segmental Duplication BAC array
Comments
ReferenceSharp et al 2005
Pubmed ID15918152
Accession Number(s)nsv471698
Frequency
Sample Size48
Observed Gain1
Observed Loss44
Observed Complex0
Frequencyn/a


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