A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1843



Internal ID15541126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:68082058..68126361hg38UCSC Ensembl
OuterchrX:67301900..67346203hg19UCSC Ensembl
OuterchrX:67218625..67262928hg18UCSC Ensembl
OuterchrX:67084921..67129224hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3844304
hg1944304
hg1844304
hg1744304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6938
Supporting Variants
SamplesNA18555
Known GenesOPHN1
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)nssv1843
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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