A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14093



Internal ID15492587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13296703..13305398hg38UCSC Ensembl
Outerchr1:13291203..13305867hg38UCSC Ensembl
Innerchr1:13402298..13410994hg19UCSC Ensembl
Outerchr1:13396801..13411463hg19UCSC Ensembl
Innerchr1:13274885..13283581hg18UCSC Ensembl
Outerchr1:13269388..13284050hg18UCSC Ensembl
Innerchr1:13147604..13156300hg17UCSC Ensembl
Outerchr1:13142107..13156769hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3814665
hg1914663
hg1814663
hg1714663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18972
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)nssv14093
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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