A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7033



Internal ID15205316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:109601071..109632948hg38UCSC Ensembl
OuterchrX:108844300..108876177hg19UCSC Ensembl
OuterchrX:108730956..108762833hg18UCSC Ensembl
OuterchrX:108650445..108682322hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg389118
hg199118
hg189118
hg179118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv902
SamplesNA19240
Known GenesKCNE1L
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)nsv7033
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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