A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5218



Internal ID15544007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48006141..48168190hg38UCSC Ensembl
OuterchrX:47865539..48027618hg19UCSC Ensembl
OuterchrX:47750483..47912562hg18UCSC Ensembl
OuterchrX:47621793..47783872hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38162050
hg19162080
hg18162080
hg17162080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6890
Supporting Variants
SamplesNA19129
Known GenesSPACA5, SPACA5B, SSX6, ZNF630
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)nssv5218
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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