A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv203



Internal ID15383393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:46928984..46951258hg38UCSC Ensembl
OuterchrX:46788419..46811870hg19UCSC Ensembl
OuterchrX:46673363..46696814hg18UCSC Ensembl
OuterchrX:46544673..46568124hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3822275
hg1923452
hg1823452
hg1723452
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv203
Supporting Variants
SamplesNA15510
Known GenesJADE3
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)nssv203
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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