A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18966



Internal ID15829709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46678593..49267895hg19UCSC Ensembl
Outerchr10:46678196..49271730hg19UCSC Ensembl
Innerchr10:46098599..48937901hg18UCSC Ensembl
Outerchr10:46098202..48941736hg18UCSC Ensembl
Innerchr10:46098599..48937901hg17UCSC Ensembl
Outerchr10:46098202..48941736hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg192593535
hg182843535
hg172843535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA10863
Known GenesAGAP9, ANTXRL, ANTXRLP1, ANXA8, ANXA8L1, ANXA8L2, BMS1P1, BMS1P2, BMS1P5, BMS1P6, CTGLF12P, CTSLP2, FAM21B, FAM25B, FAM25C, FAM25G, FAM35BP, FAM35DP, FRMPD2P1, GDF10, GDF2, GLUD1P7, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, PTPN20A, PTPN20B, RBP3, SYT15, ZNF488
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)nssv18966
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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