A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040513



Internal ID18783044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113092059..113122780hg38UCSC Ensembl
Innerchr9:115854339..115885060hg19UCSC Ensembl
Innerchr9:114894160..114924881hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3830722
hg1930722
hg1830722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7704n100
Supporting Variantsnssv3695147, nssv3695148
Samples
Known GenesFAM225A, FAM225B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040513
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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