A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5227



Internal ID15543943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52687880..52808043hg38UCSC Ensembl
OuterchrX:52716930..52837067hg19UCSC Ensembl
OuterchrX:52733655..52853792hg18UCSC Ensembl
OuterchrX:52599951..52720088hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38120164
hg19120138
hg18120138
hg17120138
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7446
Supporting Variants
SamplesNA19129
Known GenesSPANXN5, SSX2, SSX2B
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5227
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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