A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6821



Internal ID15205083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:18622224..18656388hg38UCSC Ensembl
OuterchrX:18640344..18674508hg19UCSC Ensembl
OuterchrX:18550265..18584429hg18UCSC Ensembl
OuterchrX:18400001..18434165hg17UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg385274
hg195274
hg185274
hg175274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8694
SamplesNA12156
Known GenesCDKL5, RS1
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)nsv6821
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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