A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv585665



Internal ID15813661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101708628..101713313hg38UCSC Ensembl
chr12:102102406..102107091hg19UCSC Ensembl
chr12:100626537..100631222hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384686
hg194686
hg184686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv498804
Supporting Variants
Samples
Known GenesCHPT1
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)nssv585665
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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