A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17882



Internal ID15827648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46376230..46396017hg38UCSC Ensembl
Outerchr10:46375989..46396569hg38UCSC Ensembl
Innerchr10:47747490..47767263hg19UCSC Ensembl
Outerchr10:47747249..47767815hg19UCSC Ensembl
Innerchr10:47217496..47237269hg18UCSC Ensembl
Outerchr10:47217255..47237821hg18UCSC Ensembl
Innerchr10:47217496..47237269hg17UCSC Ensembl
Outerchr10:47217255..47237821hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3820581
hg1920567
hg1820567
hg1720567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA07029
Known GenesANXA8L1, ANXA8L2
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)nssv17882
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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