A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712548



Internal ID19010829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72752278..72984653hg38UCSC Ensembl
Innerchr12:73146058..73378433hg19UCSC Ensembl
Innerchr12:71432325..71664700hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38232376
hg19232376
hg18232376
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1048896
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3712548
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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