A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048727



Internal ID19137946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:13470905..13527625hg38UCSC Ensembl
Innerchr12:13623839..13680559hg19UCSC Ensembl
Innerchr12:13515106..13571826hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3856721
hg1956721
hg1856721
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518394
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)nsv1048727
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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