A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048722



Internal ID18791253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109113435..109231865hg38UCSC Ensembl
Innerchr12:109551240..109669670hg19UCSC Ensembl
Innerchr12:108035623..108154053hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38118431
hg19118431
hg18118431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1554n100
Supporting Variantsnssv3524896, nssv3524895, nssv3524894
Samples
Known GenesACACB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048722
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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