A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499787



Internal ID15469147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51874764..51880818hg38UCSC Ensembl
chr6:51739562..51745616hg19UCSC Ensembl
chr6:51847521..51853575hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg386055
hg196055
hg186055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585981
Samples
Known GenesPKHD1
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)nsv499787
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