A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498892



Internal ID15468252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9752902..9761162hg38UCSC Ensembl
chr19:9863578..9871838hg19UCSC Ensembl
chr19:9724578..9732838hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg388261
hg198261
hg188261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585753
Samples
Known GenesZNF846
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)nsv498892
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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