A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514211



Internal ID15812628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44021118..44023694hg38UCSC Ensembl
Innerchr4:44023135..44025711hg19UCSC Ensembl
Innerchr4:43717892..43720468hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg382577
hg192577
hg182577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2908391, nssv2908405, nssv2908395, nssv2908392, nssv2908411, nssv2908420, nssv2908418, nssv2908432, nssv2908431, nssv2908394, nssv2908421, nssv2908413, nssv2908433, nssv2908435, nssv2908415, nssv2908400, nssv2908424, nssv2908399, nssv2908430, nssv2908414, nssv2908409, nssv2908406, nssv2908410, nssv2908429, nssv2908425, nssv2908417, nssv2908428, nssv2908408, nssv2908403, nssv2908402, nssv2908434, nssv2908423, nssv2908396, nssv2908426, nssv2908412, nssv2908427, nssv2908419, nssv2908404, nssv2908401, nssv2908407, nssv2908416, nssv2908398, nssv2908393, nssv2908397, nssv2908422
SamplesNA19222, NA21686, NA21477, NA21383, NA18862, NA18855, NA21399, NA21310, NA19145, NA21489, NA21648, NA21475, NA18870, NA21522, NA19201, NA21381, NA21365, NA21447, NA21382, NA19137, NA21453, NA21478, NA21601, NA21387, NA21599, NA19210, NA19175, NA21439, NA19114, NA19177, NA19150, NA18853, NA19099, NA19183, NA19115, NA19256, NA18863, NA19140, NA19174, NA19144, NA19182, NA19117, NA19102, NA21389, NA21363
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514211
Frequency
Sample Size2366
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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