A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5221



Internal ID15197316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49157141..49200688hg38UCSC Ensembl
OuterchrX:49013479..49057147hg19UCSC Ensembl
OuterchrX:48900423..48944091hg18UCSC Ensembl
OuterchrX:48769850..48813518hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3843548
hg1943669
hg1843669
hg1743669
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7442
Supporting Variants
SamplesNA19129
Known GenesMAGIX, PLP2, PRICKLE3, SYP
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)nssv5221
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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