A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499420



Internal ID15468780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95793963..96030216hg38UCSC Ensembl
chr2:96459711..96695964hg19UCSC Ensembl
chr2:95823438..96059691hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38236254
hg19236254
hg18236254
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585532
Samples
Known GenesFAHD2CP, GPAT2, LINC00342
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)nsv499420
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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