A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499238



Internal ID15815334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41375715..41378529hg38UCSC Ensembl
chr17:39531967..39534781hg19UCSC Ensembl
chr17:36785493..36788307hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg382815
hg192815
hg182815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv586293
Samples
Known GenesKRT34
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)nsv499238
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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