A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557271



Internal ID16344680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7576837..7648936hg38UCSC Ensembl
Innerchr12:7729433..7801532hg19UCSC Ensembl
Innerchr12:7620700..7692799hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3872100
hg1972100
hg1872100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2327n54
Supporting Variantsnssv1175757
Samples1780862093_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557271
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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