A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712423



Internal ID18664018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32094493..32159613hg38UCSC Ensembl
Innerchr12:32247427..32312547hg19UCSC Ensembl
Innerchr12:32138694..32203814hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3865121
hg1965121
hg1865121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1041733
Supporting Variants
Samples
Known GenesBICD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3712423
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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