A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5n1



Internal ID18990473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103993825..104091173hg38UCSC Ensembl
chrX:103248393..103335857hg19UCSC Ensembl
chrX:103135049..103222513hg18UCSC Ensembl
chrX:103054538..103142002hg17UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3897349
hg1987465
hg1887465
hg1787465
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv209, nsv210
SamplesNA15510
Known GenesH2BFM, H2BFWT, H2BFXP, MIR1256
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)dgv5n1
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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