A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv585723



Internal ID15467246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29438905..29545209hg38UCSC Ensembl
chr16:29450226..29556530hg19UCSC Ensembl
chr16:29357727..29464031hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38106305
hg19106305
hg18106305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv498862
Supporting Variants
Samples
Known GenesBOLA2, BOLA2B, LOC388242, LOC440354, LOC606724, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
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)nssv585723
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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