A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046610



Internal ID18789141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126390995..126747350hg38UCSC Ensembl
Innerchr12:126875541..127231896hg19UCSC Ensembl
Innerchr12:125441494..125797849hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38356356
hg19356356
hg18356356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1570n100
Supporting Variantsnssv3526138
Samples
Known GenesLINC00943, LINC00944, LOC100128554
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046610
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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