A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499605



Internal ID15468965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:150405001..150417347hg38UCSC Ensembl
chrX:149570954..149585621hg19UCSC Ensembl
chrX:149321612..149336279hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3812347
hg1914668
hg1814668
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv64n47
Supporting Variantsnssv585591
Samples
Known GenesMAMLD1
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)nsv499605
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer