A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040452



Internal ID18782983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84785807..85354129hg38UCSC Ensembl
Innerchr12:85179586..85747907hg19UCSC Ensembl
Innerchr12:83703717..84272038hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38568323
hg19568322
hg18568322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524755
Samples
Known GenesALX1, LRRIQ1, SLC6A15, TSPAN19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040452
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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