A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499060



Internal ID15468420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112577052..112580082hg38UCSC Ensembl
chr4:113498208..113501238hg19UCSC Ensembl
chr4:113717657..113720687hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg383031
hg193031
hg183031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585921
Samples
Known GenesC4orf21
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)nsv499060
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