A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23663



Internal ID15836025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30631445..30634888hg38UCSC Ensembl
Outerchr17:30626384..30641336hg38UCSC Ensembl
Innerchr17:28958463..28961906hg19UCSC Ensembl
Outerchr17:28953402..28968354hg19UCSC Ensembl
Innerchr17:25982589..25986032hg18UCSC Ensembl
Outerchr17:25977528..25992480hg18UCSC Ensembl
Innerchr17:25982589..25986032hg17UCSC Ensembl
Outerchr17:25977528..25992480hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3814953
hg1914953
hg1814953
hg1714953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9534
Supporting Variants
SamplesNA18563
Known GenesLRRC37BP1, SH3GL1P2
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)nssv23663
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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