A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6819



Internal ID15551766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:18318913..18343759hg38UCSC Ensembl
OuterchrX:18337033..18361879hg19UCSC Ensembl
OuterchrX:18246954..18271800hg18UCSC Ensembl
OuterchrX:18096690..18121536hg17UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3811850
hg1911850
hg1811850
hg1711850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9775
SamplesNA18507
Known GenesSCML2
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)nsv6819
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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