A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20241



Internal ID15491715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39355467..39356455hg38UCSC Ensembl
Outerchr9:39355151..39356919hg38UCSC Ensembl
Innerchr9:39355464..39356452hg19UCSC Ensembl
Outerchr9:39355148..39356916hg19UCSC Ensembl
Innerchr9:39345464..39346452hg18UCSC Ensembl
Outerchr9:39345148..39346916hg18UCSC Ensembl
Innerchr9:39345464..39346452hg17UCSC Ensembl
Outerchr9:39345148..39346916hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg381769
hg191769
hg181769
hg171769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8450
Supporting Variants
SamplesNA18860
Known GenesSPATA31A1, SPATA31A2
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)nssv20241
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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