A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428239



Internal ID5948131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122635712..123398498hg19UCSC Ensembl
Innerchr10:122625702..123388488hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv451967, nssv451968
SamplesNA19108, HGDP00449
Known GenesFGFR2, WDR11
Method
AnalysisCNVRs were generated by merging all individual human CNV calls.
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry et al 2008b
Pubmed ID18775914
Accession Number(s)nsv428239
Frequency
Sample Size62
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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