A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428351



Internal ID18278115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81152631..83064073hg38UCSC Ensembl
Innerchr17:79126431..81021949hg19UCSC Ensembl
Innerchr17:76741026..78615238hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381911443
hg191895519
hg181874213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453566, nssv453568, nssv453569, nssv453570, nssv453567
SamplesNA19257, NA19096, HGDP00467, HGDP00986, NA19225
Known GenesAATK, AATK-AS1, ACTG1, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, AZI1, B3GNTL1, BAHCC1, C17orf62, C17orf70, C17orf89, CCDC137, CCDC57, CD7, CSNK1D, DCXR, DUS1L, ENTHD2, FAM195B, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GCGR, GPS1, HEXDC, HGS, LINC00482, LOC100130370, LRRC45, MAFG, MAFG-AS1, MIR3186, MIR4740, MIR6786, MIR6787, MRPL12, MYADML2, NARF, NOTUM, NPB, NPLOC4, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PYCR1, RAB40B, RAC3, RFNG, SECTM1, SIRT7, SLC16A3, SLC25A10, SLC38A10, STRA13, TBCD, TEX19, TMEM105, TSPAN10, UTS2R, WDR45B, ZNF750
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428351
Frequency
Sample Size62
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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