A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12316



Internal ID15835610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:157402162..157408222hg38UCSC Ensembl
Outerchr4:157401231..157409113hg38UCSC Ensembl
Innerchr4:158323314..158329374hg19UCSC Ensembl
Outerchr4:158322383..158330265hg19UCSC Ensembl
Innerchr4:158542764..158548824hg18UCSC Ensembl
Outerchr4:158541833..158549715hg18UCSC Ensembl
Innerchr4:158680919..158686979hg17UCSC Ensembl
Outerchr4:158679988..158687870hg17UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg387883
hg197883
hg187883
hg177883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10592
Supporting Variants
SamplesNA18552
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)nssv12316
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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