A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv937



Internal ID15198358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154194027..154308249hg38UCSC Ensembl
OuterchrX:153459518..153536601hg19UCSC Ensembl
OuterchrX:153112712..153189795hg18UCSC Ensembl
OuterchrX:152980365..153057448hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38114223
hg1977084
hg1877084
hg1777084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7161
Supporting Variants
SamplesNA19240
Known GenesOPN1MW, OPN1MW2, TEX28, TKTL1
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)nssv937
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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