A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577961



Internal ID16018684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80071200..80073417hg38UCSC Ensembl
Innerchr18:77831200..77831830hg19UCSC Ensembl
Innerchr18:75932188..75932818hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382218
hg19631
hg18631
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv890281, nssv890276, nssv890282, nssv890299, nssv890294, nssv890302, nssv890285, nssv890297, nssv890304, nssv890303, nssv890278, nssv890298, nssv890275, nssv890288, nssv890300, nssv890274, nssv890279, nssv890289, nssv890290, nssv890280, nssv890283, nssv890287, nssv890277, nssv890284, nssv890286, nssv890295, nssv890296, nssv890301, nssv890292, nssv890293, nssv890291
Samples
Known GenesRBFADN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577961
Frequency
Sample Size17421
Observed Gain20
Observed Loss11
Observed Complex0
Frequencyn/a


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