A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499516



Internal ID15468876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95214277..95214342hg38UCSC Ensembl
chr5:94549981..94550046hg19UCSC Ensembl
chr5:94575737..94575802hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49n47
Supporting Variantsnssv586464
Samples
Known GenesMCTP1
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)nsv499516
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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