A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517361



Internal ID15097968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:56757644..56898124hg38UCSC Ensembl
Innerchr18:54424875..54565355hg19UCSC Ensembl
Innerchr18:52575873..52716353hg18UCSC Ensembl
Innerchr18:52575873..52716353hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38140481
hg19140481
hg18140481
hg17140481
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv680705, nssv692312, nssv701245, nssv683803, nssv700948, nssv664758, nssv661166, nssv695550, nssv660435, nssv667285, nssv674091, nssv685487, nssv651817, nssv660866
Samples
Known GenesWDR7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517361
Frequency
Sample Size2026
Observed Gain10
Observed Loss4
Observed Complex0
Frequencyn/a


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