A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047238



Internal ID19136457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4820621..4846269hg38UCSC Ensembl
Innerchr12:4929787..4955435hg19UCSC Ensembl
Innerchr12:4800048..4825696hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3825649
hg1925649
hg1825649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3517018
Samples
Known GenesKCNA6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047238
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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