A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047252



Internal ID18789783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113092059..113105232hg38UCSC Ensembl
Innerchr9:115854339..115867512hg19UCSC Ensembl
Innerchr9:114894160..114907333hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3813174
hg1913174
hg1813174
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3759808, nssv3695141, nssv3695133, nssv3695144, nssv3695114, nssv3695129, nssv3695137, nssv3695139, nssv3695120, nssv3695119, nssv3695131, nssv3695135, nssv3695118, nssv3759806, nssv3695140, nssv3695122, nssv3695136, nssv3695123, nssv3695142, nssv3695143, nssv3695128, nssv3759807, nssv3759809, nssv3695116, nssv3695124, nssv3695125, nssv3695138, nssv3695115, nssv3695112, nssv3759810, nssv3695130, nssv3695117, nssv3695132, nssv3695134, nssv3695113, nssv3695127, nssv3695126, nssv3695121
Samples
Known GenesFAM225B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047252
Frequency
Sample Size29084
Observed Gain2
Observed Loss36
Observed Complex0
Frequencyn/a


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