A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25612



Internal ID15484409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42751016..42850135hg38UCSC Ensembl
Outerchr19:42743162..42851074hg38UCSC Ensembl
Innerchr19:43255168..43354287hg19UCSC Ensembl
Outerchr19:43247314..43355226hg19UCSC Ensembl
Innerchr19:47947008..48046127hg18UCSC Ensembl
Outerchr19:47939154..48047066hg18UCSC Ensembl
Innerchr19:47947008..48046127hg17UCSC Ensembl
Outerchr19:47939154..48047066hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38107913
hg19107913
hg18107913
hg17107913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9730
Supporting Variants
SamplesNA12740
Known GenesLOC100289650, PSG10P, PSG8
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)nssv25612
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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