A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5273



Internal ID15196906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154125796..154220731hg38UCSC Ensembl
OuterchrX:153391266..153486200hg19UCSC Ensembl
OuterchrX:153044460..153139394hg18UCSC Ensembl
OuterchrX:152912113..153007047hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3894936
hg1994935
hg1894935
hg1794935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7161
Supporting Variants
SamplesNA19129
Known GenesOPN1LW, OPN1MW, OPN1MW2
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)nssv5273
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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