A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498970



Internal ID15468330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41253855..41258073hg38UCSC Ensembl
chr20:39882495..39886713hg19UCSC Ensembl
chr20:39315909..39320127hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg384219
hg194219
hg184219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585831
Samples
Known GenesZHX3
MethodSequencing
AnalysisFor each individuals we constructed a whole genomic library of approximately 1 million clones using a fosdmid subcloning strategy Paried end sequences from each clone were sequenced and searched against NCBI build35. Individual fosmid clones corresponding to regions of structural difference relative to the genome reference were selected and sequenced. The breakpoints determined from complete fosmid sequencing are given using the NCBI build36 genome assembly.
PlatformCapillary
Comments
ReferenceKidd_et_al_2010b
Pubmed ID21111241
Accession Number(s)nsv498970
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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