A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv207



Internal ID15037008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:101610332..101640188hg38UCSC Ensembl
OuterchrX:100865312..100895176hg19UCSC Ensembl
OuterchrX:100751968..100781832hg18UCSC Ensembl
OuterchrX:100671457..100701321hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3829857
hg1929865
hg1829865
hg1729865
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv207
SamplesNA15510
Known GenesARMCX3, ARMCX6
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)nsv207
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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