A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv585601



Internal ID15467124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236713594..236715065hg38UCSC Ensembl
chr1:236876894..236878365hg19UCSC Ensembl
chr1:234943517..234944988hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381472
hg191472
hg181472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv499679
Supporting Variants
Samples
Known GenesACTN2
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)nssv585601
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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