A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8788



Internal ID15188390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:136686659..136720594hg38UCSC Ensembl
OuterchrX:135768818..135802753hg19UCSC Ensembl
OuterchrX:135596484..135630419hg18UCSC Ensembl
OuterchrX:135494338..135528273hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg385504
hg195504
hg185504
hg175504
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7109
Supporting Variants
SamplesNA12156
Known GenesARHGEF6
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)nssv8788
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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