A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27183



Internal ID15491764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18390178..19225307hg38UCSC Ensembl
Outerchr17:18389579..19225596hg38UCSC Ensembl
Innerchr17:18293492..19128620hg19UCSC Ensembl
Outerchr17:18292893..19128909hg19UCSC Ensembl
Innerchr17:18234217..19069213hg18UCSC Ensembl
Outerchr17:18233618..19069502hg18UCSC Ensembl
Innerchr17:18234217..19069213hg17UCSC Ensembl
Outerchr17:18233618..19069502hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38836018
hg19836017
hg18835885
hg17835885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA18860
Known GenesCCDC144B, EVPLL, FAM106A, FAM83G, FBXW10, FLJ35934, FOXO3B, GRAP, GRAPL, KRT16P1, LGALS9C, LOC339240, PRPSAP2, SLC5A10, TBC1D28, TRIM16L, TVP23B, USP32P2, ZNF286B
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)nssv27183
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer