A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv585979



Internal ID15467502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32017421..32023797hg38UCSC Ensembl
chr6:31985198..31991574hg19UCSC Ensembl
chr6:32093176..32099552hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg386377
hg196377
hg186377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv499146
Supporting Variants
Samples
Known GenesC4A, C4B, C4B_2
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)nssv585979
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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