A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3521201



Internal ID18472796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:464256..506220hg38UCSC Ensembl
Innerchr12:573422..615386hg19UCSC Ensembl
Innerchr12:443683..485647hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3841965
hg1941965
hg1841965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1054692
Supporting Variants
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3521201
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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