A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514759



Internal ID15466393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87933687..87948247hg38UCSC Ensembl
Innerchr14:88400031..88414591hg19UCSC Ensembl
Innerchr14:87469784..87484344hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3814561
hg1914561
hg1814561
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2813056, nssv2809750, nssv2813592, nssv2817045, nssv2809421, nssv2809352, nssv2814004
SamplesNA12341, NA11840, NA12716, NA06984, NA12878, NA12248, NA12236
Known GenesGALC
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514759
Frequency
Sample Size2366
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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