A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498999



Internal ID15468359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47449177..47451953hg38UCSC Ensembl
chr3:47490667..47493443hg19UCSC Ensembl
chr3:47465671..47468447hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382777
hg192777
hg182777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585860
Samples
Known GenesSCAP
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)nsv498999
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer