A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1672975



Internal ID15183797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:3010013..3164461hg38UCSC Ensembl
InnerchrX:2928054..3082502hg19UCSC Ensembl
InnerchrX:2938054..3092502hg18UCSC Ensembl
InnerchrX:2523184..2677632hg16UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38154449
hg19154449
hg18154449
hg16154449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469843
Supporting Variants
Samples
Known GenesARSF, ARSH
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nssv1672975
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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