A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7161



Internal ID15552143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154125796..154330201hg38UCSC Ensembl
OuterchrX:153391266..153558551hg19UCSC Ensembl
OuterchrX:153044460..153211745hg18UCSC Ensembl
OuterchrX:152912113..153079398hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38204406
hg19167286
hg18167286
hg17167286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3833, nssv5273, nssv936, nssv937, nssv9257
SamplesNA12878, NA18517, NA19240, NA19129
Known GenesOPN1LW, OPN1MW, 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)nsv7161
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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