A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558101



Internal ID15998824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31723732..31853629hg38UCSC Ensembl
Innerchr12:31876666..32006563hg19UCSC Ensembl
Innerchr12:31767933..31897830hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38129898
hg19129898
hg18129898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv791697
Samples
Known GenesAMN1, H3F3C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558101
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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