A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv585584



Internal ID15813900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73004542..73078135hg38UCSC Ensembl
chrX:72224381..72297974hg19UCSC Ensembl
chrX:72141106..72214699hg18UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3873594
hg1973594
hg1873594
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv499562
Supporting Variants
Samples
Known GenesPABPC1L2A, PABPC1L2B
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)nssv585584
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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