A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051593



Internal ID18794124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31108764..31257350hg38UCSC Ensembl
Innerchr12:31261698..31410284hg19UCSC Ensembl
Innerchr12:31152965..31301551hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38148587
hg19148587
hg18148587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417n100
Supporting Variantsnssv3710367, nssv3513449, nssv3502768
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051593
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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