A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16070



Internal ID15491109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143748399..143757870hg38UCSC Ensembl
Outerchr7:143747479..143758944hg38UCSC Ensembl
Innerchr7:143445492..143454963hg19UCSC Ensembl
Outerchr7:143444572..143456037hg19UCSC Ensembl
Innerchr7:143076425..143085896hg18UCSC Ensembl
Outerchr7:143075505..143086970hg18UCSC Ensembl
Innerchr7:142883140..142892611hg17UCSC Ensembl
Outerchr7:142882220..142893685hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3811466
hg1911466
hg1811466
hg1711466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18853
Known GenesCTAGE6
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)nssv16070
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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