A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18960



Internal ID15497490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74963687..75075950hg38UCSC Ensembl
Outerchr7:74961729..75076679hg38UCSC Ensembl
Innerchr7:74378415..74491788hg19UCSC Ensembl
Outerchr7:74376439..74492517hg19UCSC Ensembl
Innerchr7:74016351..74129724hg18UCSC Ensembl
Outerchr7:74014375..74130453hg18UCSC Ensembl
Innerchr7:73823066..73936439hg17UCSC Ensembl
Outerchr7:73821090..73937168hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38114951
hg19116079
hg18116079
hg17116079
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8145
Supporting Variants
SamplesNA19221
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)nssv18960
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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