A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19012



Internal ID15492235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10428150..10442010hg38UCSC Ensembl
Outerchr12:10427096..10442519hg38UCSC Ensembl
Innerchr12:10580749..10594609hg19UCSC Ensembl
Outerchr12:10579695..10595118hg19UCSC Ensembl
Innerchr12:10472016..10485876hg18UCSC Ensembl
Outerchr12:10470962..10486385hg18UCSC Ensembl
Innerchr12:10472016..10485876hg17UCSC Ensembl
Outerchr12:10470962..10486385hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815424
hg1915424
hg1815424
hg1715424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8914
Supporting Variants
SamplesNA18942
Known GenesKLRC2
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)nssv19012
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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