A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16349



Internal ID15843210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79175498..79224167hg38UCSC Ensembl
Outerchr7:79174529..79225198hg38UCSC Ensembl
Innerchr7:78804814..78853483hg19UCSC Ensembl
Outerchr7:78803845..78854514hg19UCSC Ensembl
Innerchr7:78642750..78691419hg18UCSC Ensembl
Outerchr7:78641781..78692450hg18UCSC Ensembl
Innerchr7:78449465..78498134hg17UCSC Ensembl
Outerchr7:78448496..78499165hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3850670
hg1950670
hg1850670
hg1750670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8168
Supporting Variants
SamplesNA19173
Known GenesMAGI2
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)nssv16349
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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