A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498912



Internal ID15815008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11255062..11260304hg38UCSC Ensembl
chr2:11395188..11400430hg19UCSC Ensembl
chr2:11312639..11317881hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385243
hg195243
hg185243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585773
Samples
Known GenesROCK2
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)nsv498912
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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