A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv436523



Internal ID5950751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129319060..129326221hg19UCSC Ensembl
chr6:129360753..129367914hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv466319
SamplesNA18505
Known GenesLAMA2
MethodFISH
AnalysisThe best placements of paired-ends were used for identifying several different categories of SV: (i) deletions (size sd=3 kb) were identified from two or more overlapping discordant paired-ends with paired-end span >cutoff (with the condition that both putative breakpoints are spanned)
Platform454
Comments
ReferenceKorbel et al 2007
Pubmed ID17901297
Accession Number(s)nsv436523
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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