A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9662



Internal ID15500888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:893394..1317740hg38UCSC Ensembl
Outerchr19:893394..1317739hg19UCSC Ensembl
Outerchr19:844394..1268739hg18UCSC Ensembl
Outerchr19:844394..1268739hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38424347
hg19424346
hg18424346
hg17424346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24523, nssv24830, nssv21911, nssv28452, nssv22129, nssv27429, nssv25242, nssv26448
SamplesNA18502, NA11830, NA12155, NA18563, NA10839, NA12872, NA18572, NA19221
Known GenesABCA7, ARID3A, ATP5D, C19orf24, C19orf26, CIRBP, CIRBP-AS1, CNN2, EFNA2, GPX4, GRIN3B, HMHA1, KISS1R, MIDN, POLR2E, R3HDM4, SBNO2, STK11, TMEM259, WDR18
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)nsv9662
Frequency
Sample Size31
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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