A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499358



Internal ID15815454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:52893104..52969487hg38UCSC Ensembl
chrX:52922133..52998676hg19UCSC Ensembl
chrX:52938858..53015401hg18UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3876384
hg1976544
hg1876544
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585582
Samples
Known GenesFAM156A, FAM156B
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)nsv499358
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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