A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv205



Internal ID15383683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49162987..49203701hg38UCSC Ensembl
OuterchrX:49017632..49060161hg19UCSC Ensembl
OuterchrX:48904576..48947105hg18UCSC Ensembl
OuterchrX:48774003..48816532hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3840715
hg1942530
hg1842530
hg1742530
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv205
SamplesNA15510
Known GenesMAGIX, PLP2, PRICKLE3, SYP
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)nsv205
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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