A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557402



Internal ID16344811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9464487..9567639hg38UCSC Ensembl
Innerchr12:9617083..9720235hg19UCSC Ensembl
Innerchr12:9508350..9611502hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38103153
hg19103153
hg18103153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2349n54
Supporting Variantsnssv787552, nssv787546, nssv787547, nssv787551, nssv787548, nssv787550, nssv787549
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557402
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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