A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16621



Internal ID15498239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74472389..74472619hg19UCSC Ensembl
Outerchr7:74472378..74474471hg19UCSC Ensembl
Innerchr7:74110325..74110555hg18UCSC Ensembl
Outerchr7:74110314..74112407hg18UCSC Ensembl
Innerchr7:73917040..73917270hg17UCSC Ensembl
Outerchr7:73917029..73919122hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg192094
hg182094
hg172094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8145
Supporting Variants
SamplesNA19240
Known GenesWBSCR16
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)nssv16621
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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