A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498895



Internal ID15814991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:20413004..20535168hg38UCSC Ensembl
chr19:20595810..20717974hg19UCSC Ensembl
chr19:20387650..20509814hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38122165
hg19122165
hg18122165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585756
Samples
Known GenesZNF826P
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)nsv498895
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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