A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054172



Internal ID19143391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..106873hg38UCSC Ensembl
Innerchr12:150430..216039hg19UCSC Ensembl
Innerchr12:20691..86300hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3861873
hg1965610
hg1865610
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1328n100
Supporting Variantsnssv3503035, nssv3521913, nssv3517946, nssv3710805
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054172
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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