A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054220



Internal ID18796751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21459224..21539169hg38UCSC Ensembl
Innerchr12:21612158..21692103hg19UCSC Ensembl
Innerchr12:21503425..21583370hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3879946
hg1979946
hg1879946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3516623
Samples
Known GenesC12orf39, GOLT1B, GYS2, PYROXD1, RECQL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054220
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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