A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044123



Internal ID18786654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51839308..51897916hg38UCSC Ensembl
Innerchr12:52233092..52291700hg19UCSC Ensembl
Innerchr12:50519359..50577967hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3858609
hg1958609
hg1858609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1500n100
Supporting Variantsnssv3523536
Samples
Known GenesANKRD33
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044123
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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