A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557975



Internal ID16345384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29847455..29869172hg38UCSC Ensembl
Innerchr12:30000388..30022105hg19UCSC Ensembl
Innerchr12:29891655..29913372hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3821718
hg1921718
hg1821718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv790872
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557975
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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