A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050448



Internal ID18792979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31724355..31774072hg38UCSC Ensembl
Innerchr12:31877289..31927006hg19UCSC Ensembl
Innerchr12:31768556..31818273hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3849718
hg1949718
hg1849718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3520902
Samples
Known GenesAMN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050448
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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