A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558345



Internal ID16345754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34680070..34703445hg38UCSC Ensembl
Innerchr12:34833005..34856380hg19UCSC Ensembl
Innerchr12:34724272..34747647hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3823376
hg1923376
hg1823376
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2523n54
Supporting Variantsnssv793144, nssv793184, nssv793158, nssv793154, nssv793186, nssv793151, nssv793173, nssv793188, nssv793171, nssv793159, nssv793163, nssv793150, nssv793147, nssv793148, nssv793169, nssv793161, nssv793155, nssv793179, nssv793172, nssv793149, nssv793177, nssv793165, nssv793175, nssv793156, nssv793181, nssv793160, nssv793178, nssv793152, nssv793164, nssv793153, nssv793185, nssv793166, nssv793143, nssv793183, nssv793182, nssv793146, nssv793168, nssv793170, nssv793167, nssv793157, nssv793145, nssv793180, nssv793174, nssv793187, nssv793176, nssv793162
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558345
Frequency
Sample Size17421
Observed Gain41
Observed Loss5
Observed Complex0
Frequencyn/a


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