A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv585623



Internal ID15467146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141175152..141193769hg38UCSC Ensembl
chr5:140554733..140573342hg19UCSC Ensembl
chr5:140534917..140553526hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3818618
hg1918610
hg1818610
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv499084
Supporting Variants
Samples
Known GenesPCDHB10, PCDHB16, PCDHB7, PCDHB8, PCDHB9
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)nssv585623
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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