A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526124



Internal ID18477719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:125009120..125044073hg38UCSC Ensembl
Innerchr12:125493666..125528619hg19UCSC Ensembl
Innerchr12:124059619..124094572hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3834954
hg1934954
hg1834954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1047470
Supporting Variants
Samples
Known GenesBRI3BP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526124
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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