A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560498



Internal ID16001221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123645377..123711309hg38UCSC Ensembl
Innerchr12:124129924..124195856hg19UCSC Ensembl
Innerchr12:122695877..122761809hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3865933
hg1965933
hg1865933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2926n54
Supporting Variantsnssv803655
Samples
Known GenesGTF2H3, TCTN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560498
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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