A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1673837



Internal ID15531345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48033719..48213935hg38UCSC Ensembl
InnerchrX:47893114..48073370hg19UCSC Ensembl
InnerchrX:47778058..47958314hg18UCSC Ensembl
InnerchrX:46939096..47119352hg16UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38180217
hg19180257
hg18180257
hg16180257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469888
Supporting Variants
Samples
Known GenesSPACA5, SPACA5B, SSX5, SSX6, ZNF630
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)nssv1673837
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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