A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20010



Internal ID15497265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:150165973..150184695hg38UCSC Ensembl
Outerchr7:150165168..150185474hg38UCSC Ensembl
Innerchr7:149863062..149881784hg19UCSC Ensembl
Outerchr7:149862257..149882563hg19UCSC Ensembl
Innerchr7:149493995..149512717hg18UCSC Ensembl
Outerchr7:149493190..149513496hg18UCSC Ensembl
Innerchr7:149300710..149319432hg17UCSC Ensembl
Outerchr7:149299905..149320211hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3820307
hg1920307
hg1820307
hg1720307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8229
Supporting Variants
SamplesNA19221
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)nssv20010
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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