A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514430



Internal ID15466116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88041469..88042901hg38UCSC Ensembl
Innerchr7:87670784..87672216hg19UCSC Ensembl
Innerchr7:87508720..87510152hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381433
hg191433
hg181433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2952268, nssv2952273, nssv2952272, nssv2952274, nssv2952267, nssv2952271, nssv2952264, nssv2952265, nssv2952275, nssv2952266, nssv2952269, nssv2952270
SamplesNA10831, NA12818, NA10863, NA12329, NA12829, NA12400, NA12234, NA12890, NA06984, NA12156, NA10835, NA12248
Known GenesADAM22
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514430
Frequency
Sample Size2366
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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