A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515970



Internal ID6014837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54524658..54531235hg19UCSC Ensembl
Innerchr10:54194664..54201241hg18UCSC Ensembl
Innerchr10:54194664..54201241hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv665531, nssv703879, nssv658141, nssv666410, nssv662506, nssv690150, nssv675429, nssv679108, nssv683491, nssv698898, nssv675576, nssv659890
Samples
Known GenesMBL2
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv515970
Frequency
Sample Size2026
Observed Gain1
Observed Loss11
Observed Complex0
Frequencyn/a


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