A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514189



Internal ID15812531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:177576702..177665790hg38UCSC Ensembl
Innerchr3:177294490..177383578hg19UCSC Ensembl
Innerchr3:178777184..178866272hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3889089
hg1989089
hg1889089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2894936, nssv2894948, nssv2894949, nssv2894954, nssv2894932, nssv2894941, nssv2894950, nssv2894945, nssv2894955, nssv2894931, nssv2894933, nssv2894938, nssv2894939, nssv2894943, nssv2894947, nssv2894951, nssv2894940, nssv2894952, nssv2894935, nssv2894934, nssv2894942, nssv2894937, nssv2894953, nssv2894944, nssv2894946
SamplesNA12340, NA12248, NA10857, NA10835, NA07048, NA11918, NA12287, NA12044, NA21362, NA12335, NA12760, NA12489, NA10863, NA12878, NA12485, NA12376, NA11839, NA12892, NA12239, NA12264, NA12043, NA07055, NA11843, NA11892, NA11832
Known GenesLINC00578
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514189
Frequency
Sample Size2366
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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