A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050208



Internal ID18792739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126502891..128014632hg38UCSC Ensembl
Innerchr12:126987437..128499177hg19UCSC Ensembl
Innerchr12:125553390..127065130hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381511742
hg191511741
hg181511741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1573n100
Supporting Variantsnssv3526143
Samples
Known GenesFLJ37505, LINC00507, LINC00943, LINC00944, LOC101927592, LOC440117
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050208
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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