A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203



Internal ID15833587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29675169..29678251hg38UCSC Ensembl
Outerchr7:29674218..29679559hg38UCSC Ensembl
Innerchr7:29714785..29717867hg19UCSC Ensembl
Outerchr7:29713834..29719175hg19UCSC Ensembl
Innerchr7:29681310..29684392hg18UCSC Ensembl
Outerchr7:29680359..29685700hg18UCSC Ensembl
Innerchr7:29488025..29491107hg17UCSC Ensembl
Outerchr7:29487074..29492415hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg385342
hg195342
hg185342
hg175342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8072
Supporting Variants
SamplesNA18504
Known GenesLOC646762
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)nssv17203
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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