A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19648



Internal ID15842420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:41297390..41318765hg38UCSC Ensembl
Outerchr9:41296972..41318875hg38UCSC Ensembl
Innerchr9:45380413..45401788hg19UCSC Ensembl
Outerchr9:45379995..45401898hg19UCSC Ensembl
Innerchr9:45270409..45291784hg18UCSC Ensembl
Outerchr9:45269991..45291894hg18UCSC Ensembl
Innerchr9:44319349..44340724hg17UCSC Ensembl
Outerchr9:44318931..44340834hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3821904
hg1921904
hg1821904
hg1721904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8472
Supporting Variants
SamplesNA19144
Known Genes
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)nssv19648
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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