A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16040



Internal ID15490797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143571604..143581063hg38UCSC Ensembl
Outerchr7:143570525..143581983hg38UCSC Ensembl
Innerchr7:143268697..143278156hg19UCSC Ensembl
Outerchr7:143267618..143279076hg19UCSC Ensembl
Innerchr7:142978819..142988278hg18UCSC Ensembl
Outerchr7:142977740..142989198hg18UCSC Ensembl
Innerchr7:142785534..142794993hg17UCSC Ensembl
Outerchr7:142784455..142795913hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3811459
hg1911459
hg1811459
hg1711459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18853
Known GenesCTAGE15
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)nssv16040
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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