A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557758



Internal ID16345167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23311997..23482084hg38UCSC Ensembl
Innerchr12:23464931..23635018hg19UCSC Ensembl
Innerchr12:23356198..23526285hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38170088
hg19170088
hg18170088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789583
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557758
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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