A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1672280



Internal ID15183102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:103928672..104131003hg38UCSC Ensembl
InnerchrX:103183252..103375684hg19UCSC Ensembl
InnerchrX:103069908..103262340hg18UCSC Ensembl
InnerchrX:101955109..102147541hg16UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38202332
hg19192433
hg18192433
hg16192433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469772
Supporting Variants
Samples
Known GenesH2BFM, H2BFWT, H2BFXP, LOC286437, MIR1256, SLC25A53, TMSB15B, ZCCHC18
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)nssv1672280
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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