A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3507785



Internal ID18459380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:466467..652394hg38UCSC Ensembl
Innerchr12:575633..761560hg19UCSC Ensembl
Innerchr12:445894..631821hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38185928
hg19185928
hg18185928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1040579
Supporting Variants
Samples
Known GenesB4GALNT3, NINJ2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3507785
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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