A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557124



Internal ID16344533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4616902..4642632hg38UCSC Ensembl
Innerchr12:4726068..4751798hg19UCSC Ensembl
Innerchr12:4596329..4622059hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3825731
hg1925731
hg1825731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175419
Samples1780854545_A
Known GenesAKAP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557124
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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