A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8729



Internal ID15846641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:122497724..122503522hg38UCSC Ensembl
Outerchr10:124257240..124263038hg19UCSC Ensembl
Outerchr10:124247230..124253028hg18UCSC Ensembl
Outerchr10:124247230..124253028hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg385799
hg195799
hg185799
hg175799
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22523
SamplesNA18972
Known GenesHTRA1
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)nsv8729
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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