A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8914



Internal ID15500140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10379701..10510077hg38UCSC Ensembl
Outerchr12:10532300..10662676hg19UCSC Ensembl
Outerchr12:10423567..10553943hg18UCSC Ensembl
Outerchr12:10423567..10553943hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38130377
hg19130377
hg18130377
hg17130377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25651, nssv23916, nssv20598, nssv18845, nssv19012, nssv20276, nssv23632
SamplesNA10847, NA18972, NA18517, NA18564, NA18942, NA19221, NA19007
Known GenesKLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRK1
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)nsv8914
Frequency
Sample Size31
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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