A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10161



Internal ID15498438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:776731..1777210hg38UCSC Ensembl
Outerchr1:712111..1708649hg19UCSC Ensembl
Outerchr1:701974..1698509hg18UCSC Ensembl
Outerchr1:751974..1740811hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381000480
hg19996539
hg18996536
hg17988838
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24600, nssv28558, nssv28946, nssv21448, nssv26877, nssv28533, nssv24610, nssv28552, nssv21431, nssv28048, nssv28038, nssv26892, nssv26882, nssv21429, nssv26876, nssv28940, nssv28029, nssv24621, nssv28031, nssv26888, nssv21436, nssv18108, nssv28542, nssv24602, nssv28921, nssv26879
SamplesNA19173, NA10839, NA18972, NA19144, NA10863, NA12740, NA07048, NA18537, NA18572, NA12872, NA18504, NA18564, NA19221, NA18552
Known GenesACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1orf159, C1orf170, C1orf233, CCNL2, CDK11A, CDK11B, CPSF3L, DVL1, FAM132A, FAM41C, FAM87B, GLTPD1, HES4, ISG15, KLHL17, LINC00115, LINC01128, LOC100130417, LOC100288069, LOC148413, LOC254099, MIB2, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, MIR6808, MMP23A, MMP23B, MRPL20, MXRA8, NADK, NOC2L, PLEKHN1, PUSL1, RNF223, SAMD11, SCNN1D, SDF4, SLC35E2, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM88B, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10161
Frequency
Sample Size31
Observed Gain11
Observed Loss7
Observed Complex0
Frequencyn/a


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