A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv208



Internal ID15037009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103973876..104021207hg38UCSC Ensembl
OuterchrX:103228460..103275775hg19UCSC Ensembl
OuterchrX:103115116..103162431hg18UCSC Ensembl
OuterchrX:103034605..103081920hg17UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3847332
hg1947316
hg1847316
hg1747316
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv208
SamplesNA15510
Known GenesH2BFWT, 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)nsv208
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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