A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052256



Internal ID18794787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48654723..48672204hg38UCSC Ensembl
Innerchr12:49048506..49065987hg19UCSC Ensembl
Innerchr12:47334773..47352254hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3817482
hg1917482
hg1817482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1496n100
Supporting Variantsnssv3523527, nssv3523526
Samples
Known GenesKANSL2, SNORA2A, SNORA2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052256
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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