A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv220



Internal ID15036726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154377287..154400506hg38UCSC Ensembl
OuterchrX:153605647..153628847hg19UCSC Ensembl
OuterchrX:153258841..153282041hg18UCSC Ensembl
OuterchrX:153126494..153149694hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3823220
hg1923201
hg1823201
hg1723201
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv220
Supporting Variants
SamplesNA15510
Known GenesEMD, RPL10, SNORA70
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)nssv220
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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