A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514357



Internal ID15812770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:39101122..39104278hg38UCSC Ensembl
Innerchr6:39068898..39072054hg19UCSC Ensembl
Innerchr6:39176876..39180032hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383157
hg193157
hg183157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2937438, nssv2937441, nssv2937454, nssv2937444, nssv2937455, nssv2937450, nssv2937437, nssv2937452, nssv2937451, nssv2937439, nssv2937436, nssv2937446, nssv2937443, nssv2937445, nssv2937440, nssv2937449, nssv2937448, nssv2937453, nssv2937447, nssv2937435, nssv2937442
SamplesNA18862, NA18486, NA21365, NA21525, NA19235, NA21478, NA19189, NA21523, NA21362, NA21634, NA21480, NA21313, NA18485, NA18518, NA21309, NA19206, NA19147, NA18863, NA21615, NA18484, NA18487
Known GenesSAYSD1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514357
Frequency
Sample Size2366
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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