A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5228



Internal ID15543941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:53734433..53756281hg38UCSC Ensembl
OuterchrX:53761375..53782779hg19UCSC Ensembl
OuterchrX:53778100..53799504hg18UCSC Ensembl
OuterchrX:53644396..53665800hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3821849
hg1921405
hg1821405
hg1721405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6911
Supporting Variants
SamplesNA19129
Known Genes
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)nssv5228
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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