A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28452



Internal ID15497328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:934031..1316488hg38UCSC Ensembl
Outerchr19:893394..1317740hg38UCSC Ensembl
Innerchr19:934031..1316487hg19UCSC Ensembl
Outerchr19:893394..1317739hg19UCSC Ensembl
Innerchr19:885031..1267487hg18UCSC Ensembl
Outerchr19:844394..1268739hg18UCSC Ensembl
Innerchr19:885031..1267487hg17UCSC 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 StatusS
Merged Variantsnsv9662
Supporting Variants
SamplesNA19221
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)nssv28452
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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