A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13422



Internal ID15486347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16507490..16515925hg38UCSC Ensembl
Outerchr1:16507107..16520512hg38UCSC Ensembl
Innerchr1:16833985..16842420hg19UCSC Ensembl
Outerchr1:16833602..16847007hg19UCSC Ensembl
Innerchr1:16706572..16715007hg18UCSC Ensembl
Outerchr1:16706189..16719594hg18UCSC Ensembl
Innerchr1:16579291..16587726hg17UCSC Ensembl
Outerchr1:16578908..16592313hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3813406
hg1913406
hg1813406
hg1713406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18502
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)nssv13422
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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