A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17225



Internal ID15829023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46378626..46396017hg38UCSC Ensembl
Outerchr10:46378201..46396569hg38UCSC Ensembl
Innerchr10:47749886..47767263hg19UCSC Ensembl
Outerchr10:47749439..47767815hg19UCSC Ensembl
Innerchr10:47219892..47237269hg18UCSC Ensembl
Outerchr10:47219445..47237821hg18UCSC Ensembl
Innerchr10:47219892..47237269hg17UCSC Ensembl
Outerchr10:47219445..47237821hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3818369
hg1918377
hg1818377
hg1718377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA10847
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)nssv17225
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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