A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18656



Internal ID15494750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49848578..49883298hg38UCSC Ensembl
Outerchr10:49843671..49884800hg38UCSC Ensembl
Innerchr10:51056624..51091344hg19UCSC Ensembl
Outerchr10:51051717..51092846hg19UCSC Ensembl
Innerchr10:50726630..50761350hg18UCSC Ensembl
Outerchr10:50721723..50762852hg18UCSC Ensembl
Innerchr10:50726630..50761350hg17UCSC Ensembl
Outerchr10:50721723..50762852hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3841130
hg1941130
hg1841130
hg1741130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8640
Supporting Variants
SamplesNA19007
Known GenesPARG
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)nssv18656
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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