A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498847



Internal ID15468207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:56374840..56604197hg38UCSC Ensembl
chr15:56667038..56896395hg19UCSC Ensembl
chr15:54454330..54683687hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38229358
hg19229358
hg18229358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585708
Samples
Known GenesMNS1, TEX9
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)nsv498847
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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