A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045957



Internal ID19135176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79004321..79101401hg38UCSC Ensembl
Innerchr12:79398101..79495181hg19UCSC Ensembl
Innerchr12:77922232..78019312hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3897081
hg1997081
hg1897081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712556
Samples
Known GenesSYT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045957
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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