A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527425



Internal ID6017000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104162263..104198251hg19UCSC Ensembl
Innerchr14:103232016..103268004hg18UCSC Ensembl
Innerchr14:103232016..103268004hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv703863
Samples
Known GenesKLC1, XRCC3, ZFYVE21
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv527425
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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