A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514151



Internal ID15812495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52993452..53004900hg38UCSC Ensembl
Innerchr3:53027468..53038916hg19UCSC Ensembl
Innerchr3:53002508..53013956hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3811449
hg1911449
hg1811449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2898951, nssv2898972, nssv2898967, nssv2898966, nssv2898945, nssv2898965, nssv2898962, nssv2898952, nssv2898956, nssv2898949, nssv2898953, nssv2898974, nssv2898948, nssv2898964, nssv2898944, nssv2898968, nssv2898954, nssv2898961, nssv2898946, nssv2898970, nssv2898947, nssv2898960, nssv2898963, nssv2898975, nssv2898973, nssv2898958, nssv2898957, nssv2898959, nssv2898969, nssv2898950, nssv2898955, nssv2898943, nssv2898971
SamplesNA18621, NA12801, NA12340, NA12248, NA12058, NA18633, NA07357, NA07346, NA18940, NA12812, NA18558, NA12287, NA11994, NA10850, NA12335, NA18956, NA12877, NA12376, NA11893, NA12239, NA12144, NA06985, NA12778, NA12546, NA18632, NA11882, NA06991, NA07055, NA07349, NA18609, NA12890, NA10864, NA11832
Known GenesSFMBT1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514151
Frequency
Sample Size2366
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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