A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18312



Internal ID15485846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144108832..144127107hg38UCSC Ensembl
Outerchr7:144107735..144127779hg38UCSC Ensembl
Innerchr7:143805925..143824200hg19UCSC Ensembl
Outerchr7:143804828..143824872hg19UCSC Ensembl
Innerchr7:143436858..143455133hg18UCSC Ensembl
Outerchr7:143435761..143455805hg18UCSC Ensembl
Innerchr7:143243573..143261848hg17UCSC Ensembl
Outerchr7:143242476..143262520hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3820045
hg1920045
hg1820045
hg1720045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18502
Known GenesOR2A2
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)nssv18312
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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