A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557638



Internal ID16345047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16100342..16132784hg38UCSC Ensembl
Innerchr12:16253276..16285718hg19UCSC Ensembl
Innerchr12:16144543..16176985hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3832443
hg1932443
hg1832443
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv788983
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557638
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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