A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514870



Internal ID15813229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:44396989..44398525hg38UCSC Ensembl
Innerchr18:41976954..41978490hg19UCSC Ensembl
Innerchr18:40230952..40232488hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg381537
hg191537
hg181537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2838229, nssv2838261, nssv2838258, nssv2838251, nssv2838233, nssv2838248, nssv2838247, nssv2838232, nssv2838262, nssv2838235, nssv2838242, nssv2838260, nssv2838241, nssv2838234, nssv2838263, nssv2838253, nssv2838252, nssv2838259, nssv2838254, nssv2838246, nssv2838230, nssv2838264, nssv2838267, nssv2838244, nssv2838238, nssv2838265, nssv2838256, nssv2838231, nssv2838255, nssv2838237, nssv2838266, nssv2838239, nssv2838250, nssv2838240, nssv2838249, nssv2838257, nssv2838236, nssv2838245, nssv2838243
SamplesNA19122, NA18507, NA12751, NA19107, NA07346, NA19127, NA19191, NA18860, NA18960, NA21447, NA19123, NA18868, NA19189, NA21362, NA12375, NA11831, NA21313, NA10863, NA18516, NA21439, NA18910, NA19179, NA12239, NA12264, NA21583, NA19094, NA19183, NA19174, NA19193, NA18869, NA18911, NA19182, NA19117, NA19093, NA18509, NA19129, NA18488, NA18511, NA07000
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514870
Frequency
Sample Size2366
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer