A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556949



Internal ID15997672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1328560..1404855hg38UCSC Ensembl
Innerchr12:1437726..1514021hg19UCSC Ensembl
Innerchr12:1307987..1384282hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3876296
hg1976296
hg1876296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786284
Samples
Known GenesERC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556949
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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